A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983664



Internal ID12976663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82335541..82820719hg38UCSC Ensembl
Innerchr7:81964857..82450035hg19UCSC Ensembl
Innerchr7:81802793..82287971hg18UCSC Ensembl
Innerchr7:81609508..82094686hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38485179
hg19485179
hg18485179
hg17485179
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752186
Supporting Variants
SamplesBEC_678
Known GenesCACNA2D1, PCLO
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983664
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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