A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6972188



Internal ID9726512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:37063305..37063717hg38UCSC Ensembl
Outerchr21:38435605..38436017hg19UCSC Ensembl
Cytoband21q22.13
Allele length
AssemblyAllele length
hg38413
hg19413
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723396
Supporting Variants
SamplesSSM028
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)essv6972188
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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