A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989908



Internal ID12630928
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18084801..21000405hg38UCSC Ensembl
Innerchr21:19457119..22372723hg19UCSC Ensembl
Innerchr21:18378990..21294594hg18UCSC Ensembl
Innerchr21:18378990..21294594hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382915605
hg192915605
hg182915605
hg172915605
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751925
Supporting Variants
SamplesBEC_765
Known GenesCHODL, LINC00320, NCAM2, TMPRSS15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989908
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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