A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981783



Internal ID12973921
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:16797178..17169191hg38UCSC Ensembl
Innerchr21:18169497..18541509hg19UCSC Ensembl
Innerchr21:17091368..17463380hg18UCSC Ensembl
Innerchr21:17091368..17463380hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38372014
hg19372013
hg18372013
hg17372013
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751924
Supporting Variants
SamplesBEC_468
Known Genes
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981783
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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