A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6723238



Internal ID10134396
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32648023..32751276hg38UCSC Ensembl
Outerchr6:32615800..32719053hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38103254
hg19103254
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731866, esv2731864
Supporting Variants
SamplesSSM045
Known GenesHLA-DQA2, HLA-DQB1
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)essv6723238
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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