A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751929



Internal ID12985481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36798129..37060321hg38UCSC Ensembl
Innerchr21:38170430..38432621hg19UCSC Ensembl
Innerchr21:37092300..37354491hg18UCSC Ensembl
Innerchr21:37092300..37354491hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38262193
hg19262192
hg18262192
hg17262192
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6985549, essv6981332, essv6985548, essv6981330, essv6981331
SamplesBEC_386
Known GenesHLCS, RIPPLY3
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)esv2751929
Frequency
Sample Size771
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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