A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6859099



Internal ID9909987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44602654..44768044hg38UCSC Ensembl
Outerchr21:46022571..46187959hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg38165391
hg19165389
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723675
Supporting Variants
SamplesSSM087
Known GenesKRTAP10-10, KRTAP10-11, KRTAP10-12, KRTAP10-8, KRTAP10-9, KRTAP12-1, KRTAP12-2, KRTAP12-3, KRTAP12-4, TSPEAR
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)essv6859099
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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