A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729540



Internal ID9793382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44733176..44733701hg38UCSC Ensembl
Outerchr21:46153091..46153616hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38526
hg19526
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723678, esv2723675
Supporting Variants
SamplesSSM046
Known Genes
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)essv6729540
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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