A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752124



Internal ID12638990
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr6:37448443..37712846hg38UCSC Ensembl
Innerchr6:37416219..37680622hg19UCSC Ensembl
Innerchr6:37524197..37788600hg18UCSC Ensembl
Innerchr6:37524197..37788600hg17UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg38264404
hg19264404
hg18264404
hg17264404
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6981876, essv6985686, essv6981877, essv6985687, essv6981878
SamplesBEC_497
Known GenesCCDC167, CMTR1, MDGA1, MIR4462
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2752124
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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