A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6989410



Internal ID12630930
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:18059811..19527413hg38UCSC Ensembl
Innerchr21:19432129..20899729hg19UCSC Ensembl
Innerchr21:18354000..19821600hg18UCSC Ensembl
Innerchr21:18354000..19821600hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381467603
hg191467601
hg181467601
hg171467601
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 Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6989410
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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