A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989907



Internal ID12630929
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18035494..21000405hg38UCSC Ensembl
Innerchr21:19407812..22372723hg19UCSC Ensembl
Innerchr21:18329683..21294594hg18UCSC Ensembl
Innerchr21:18329683..21294594hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382964912
hg192964912
hg182964912
hg172964912
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)essv6989907
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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