A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984062



Internal ID12630943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18099811..19062910hg38UCSC Ensembl
Innerchr21:19472129..20435229hg19UCSC Ensembl
Innerchr21:18394000..19357100hg18UCSC Ensembl
Innerchr21:18394000..19357100hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg38963100
hg19963101
hg18963101
hg17963101
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751925
Supporting Variants
SamplesBEC_765
Known GenesCHODL, TMPRSS15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Nsp SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984062
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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