A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6985549



Internal ID12626505
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:36817106..37045891hg38UCSC Ensembl
Innerchr21:38189406..38418191hg19UCSC Ensembl
Innerchr21:37111276..37340061hg18UCSC Ensembl
Innerchr21:37111276..37340061hg17UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38228786
hg19228786
hg18228786
hg17228786
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 Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6985549
Frequency
Sample Size771
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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