A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989261



Internal ID12973915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:16797210..17169211hg38UCSC Ensembl
Innerchr21:18169529..18541529hg19UCSC Ensembl
Innerchr21:17091400..17463400hg18UCSC Ensembl
Innerchr21:17091400..17463400hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38372002
hg19372001
hg18372001
hg17372001
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)essv6989261
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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