A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6981330



Internal ID12626496
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36798134..37018416hg38UCSC Ensembl
Innerchr21:38170435..38390716hg19UCSC Ensembl
Innerchr21:37092305..37312586hg18UCSC Ensembl
Innerchr21:37092305..37312586hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38220283
hg19220282
hg18220282
hg17220282
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751929
Supporting Variants
SamplesBEC_386
Known GenesHLCS, RIPPLY3
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6981330
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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