A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6982200



Internal ID12626648
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr7:7689619..8136670hg38UCSC Ensembl
Innerchr7:7729250..8176300hg19UCSC Ensembl
Innerchr7:7695775..8142825hg18UCSC Ensembl
Innerchr7:7502490..7949540hg17UCSC Ensembl
Cytoband7p21.3
Allele length
AssemblyAllele length
hg38447052
hg19447051
hg18447051
hg17447051
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2752177
Supporting Variants
SamplesBEC_401
Known GenesGLCCI1, ICA1, RPA3, RPA3-AS1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6982200
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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