A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6983665



Internal ID12629976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:82339433..82831633hg38UCSC Ensembl
Innerchr7:81968749..82460949hg19UCSC Ensembl
Innerchr7:81806685..82298885hg18UCSC Ensembl
Innerchr7:81613400..82105600hg17UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38492201
hg19492201
hg18492201
hg17492201
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6983665
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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