A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6984064



Internal ID12630945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr21:19748815..20983511hg38UCSC Ensembl
Innerchr21:21121129..22355829hg19UCSC Ensembl
Innerchr21:20043000..21277700hg18UCSC Ensembl
Innerchr21:20043000..21277700hg17UCSC Ensembl
Cytoband21q21.1
Allele length
AssemblyAllele length
hg381234697
hg191234701
hg181234701
hg171234701
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2751925
Supporting Variants
SamplesBEC_765
Known GenesLINC00320
MethodSNP array
Analysis
PlatformAffymetrix Mapping 250K Sty2 SNP Array
Comments
ReferencePinto_et_al_2007
Pubmed ID17911159
Accession Number(s)essv6984064
Frequency
Sample Size771
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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