A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6930426



Internal ID10040098
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32637248..32741305hg38UCSC Ensembl
Outerchr6:32605025..32709082hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38104058
hg19104058
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731864
Supporting Variants
SamplesSSM020
Known GenesHLA-DQA1, 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)essv6930426
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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