A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2752186



Internal ID12639052
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82328321..82831633hg38UCSC Ensembl
Innerchr7:81957637..82460949hg19UCSC Ensembl
Innerchr7:81795573..82298885hg18UCSC Ensembl
Innerchr7:81602288..82105600hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38503313
hg19503313
hg18503313
hg17503313
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6983664, essv6983665, essv6986488, essv6986489, essv6988697
SamplesBEC_678
Known GenesCACNA2D1, PCLO
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)esv2752186
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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