Variant Details for CHD2
Basic Information Top
| Gene Symbol: | CHD2 ( DKFZp547I1315,DKFZp686E01200,DKFZp781D1727,FLJ38614 ) |
|---|---|
| Gene Full Name: | chromodomain helicase DNA binding protein 2 |
| Band: | 15q26.1 |
| Quick Links | Entrez ID:1106; OMIM: 602119; Uniprot ID:CHD2_HUMAN; ENSEMBL ID: ENSG00000173575; HGNC ID: 1917 |
| Relate to Another Database: | SFARIGene; denovo-db |
Variant Statistic TopClick the link of the category-specific score to view different category of evidences. The categories without any evidences are hidden by default. Chromosome coordinates: hg19
| Genetic Category | CNVs/SVs | de novo Mutations | Mosaics SNVs | NGS Other Mutations | Low-Scale Gene Mutations | Linkage Regions | Total |
|---|---|---|---|---|---|---|---|
| Number | 9 | 15 | 2 | 11 | 1 | 1 | 39 |
CNVs/SVs Top| CNV ID | Chr | Band | Start | End | Size | Gain/Loss | UCSC Browser | Reference |
|---|---|---|---|---|---|---|---|---|
| AutCNV0000292 | 15 | 15q25-26.3 | 78312945 | 102521392 | 24208447 | gain | external link | Bonati, 2005 |
| AutCNV0000112 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000110 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000029 | 15 | 15q24.2-26.3 | 76503345 | 102352477 | 25849132 | gain | external link | Szatmari, 2007 |
| AutCNV0000028 | 15 | 15q21.2-26.3 | 51558408 | 102352477 | 50794069 | gain | external link | Szatmari, 2007 |
| AutCNV0000825 | 15 | 15q26.1 | 93399003 | 93482000 | 82997 | loss | external link | Pinto, 2010 |
| AutCNV0004324 | 15 | 15q26.1 | 93399003 | 93482000 | 82997 | loss | external link | Sanders, 2011 |