A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751926



Internal ID12985478
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:32047316..32091533hg38UCSC Ensembl
Innerchr21:33419629..33463846hg19UCSC Ensembl
Innerchr21:32341500..32385717hg18UCSC Ensembl
Innerchr21:32341500..32385717hg17UCSC Ensembl
Cytoband21q22.11
Allele length
AssemblyAllele length
hg3844218
hg1944218
hg1844218
hg1744218
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6986278, essv6982834, essv6982833
SamplesBEC_603
Known GenesLINC00159
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Affymetrix Mapping 250K Sty2 SNP Array
CommentsSample level SV from stringent call set
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)esv2751926
Frequency
Sample Size771
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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