A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6988985



Internal ID12637342
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:168062..253971hg38UCSC Ensembl
Innerchr3:209745..295654hg19UCSC Ensembl
Innerchr3:184745..270654hg18UCSC Ensembl
Innerchr3:184745..270654hg17UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg3885910
hg1985910
hg1885910
hg1785910
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751984
Supporting Variants
SamplesSPC_47
Known GenesCHL1
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6988985
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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