A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2751924



Internal ID12985476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:16797178..17169211hg38UCSC Ensembl
Innerchr21:18169497..18541529hg19UCSC Ensembl
Innerchr21:17091368..17463400hg18UCSC Ensembl
Innerchr21:17091368..17463400hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38372034
hg19372033
hg18372033
hg17372033
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6989261, essv6981784, essv6989514, essv6989515, essv6981783
SamplesBEC_468
Known Genes
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)esv2751924
Frequency
Sample Size771
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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