A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751891



Internal ID12638757
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:43580229..43749124hg38UCSC Ensembl
Innerchr2:43807368..43976263hg19UCSC Ensembl
Innerchr2:43660872..43829767hg18UCSC Ensembl
Innerchr2:43719019..43887914hg17UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38168896
hg19168896
hg18168896
hg17168896
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv148e55
Supporting Variantsessv6983225, essv6983224, essv6989757
SamplesBEC_557
Known GenesLOC728819, PLEKHH2, THADA
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)esv2751891
Frequency
Sample Size771
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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