A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6980210



Internal ID12981457
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:195922112..196031114hg38UCSC Ensembl
Innerchr1:195891242..196000244hg19UCSC Ensembl
Innerchr1:194157865..194266867hg18UCSC Ensembl
Innerchr1:192622899..192731901hg17UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg38109003
hg19109003
hg18109003
hg17109003
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv35094
Supporting Variants
SamplesNA18969
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6980210
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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