A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984961



Internal ID12637113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:68037457..68323676hg38UCSC Ensembl
Innerchr6:68747349..69033568hg19UCSC Ensembl
Innerchr6:68804070..69090289hg18UCSC Ensembl
Innerchr6:68804070..69090289hg17UCSC Ensembl
Cytoband6q12
Allele length
AssemblyAllele length
hg38286220
hg19286220
hg18286220
hg17286220
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752129
Supporting Variants
SamplesSPC_20
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984961
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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