A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6954609



Internal ID9712259
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43631792..43632359hg38UCSC Ensembl
Outerchr21:45051673..45052240hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38568
hg19568
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723611
Supporting Variants
SamplesSSM025
Known GenesHSF2BP
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6954609
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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