A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6979493



Internal ID12633605
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:296852..843614hg38UCSC Ensembl
Innerchr2:296852..839556hg19UCSC Ensembl
Innerchr2:286852..829556hg18UCSC Ensembl
Innerchr2:286852..829556hg17UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38546763
hg19542705
hg18542705
hg17542705
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv34786
Supporting Variants
SamplesNA18563
Known GenesLINC01115, TMEM18
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6979493
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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