A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984061



Internal ID12630942
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18059829..20983528hg38UCSC Ensembl
Innerchr21:19432147..22355846hg19UCSC Ensembl
Innerchr21:18354018..21277717hg18UCSC Ensembl
Innerchr21:18354018..21277717hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg382923700
hg192923700
hg182923700
hg172923700
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751925
Supporting Variants
SamplesBEC_765
Known GenesCHODL, LINC00320, TMPRSS15
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984061
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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