A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6986488



Internal ID12629972
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82335533..82820733hg38UCSC Ensembl
Innerchr7:81964849..82450049hg19UCSC Ensembl
Innerchr7:81802785..82287985hg18UCSC Ensembl
Innerchr7:81609500..82094700hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38485201
hg19485201
hg18485201
hg17485201
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)essv6986488
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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