A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6798837



Internal ID10201204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32472896..32589215hg38UCSC Ensembl
Outerchr6:32440673..32556992hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38116320
hg19116320
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731839, esv2731842, esv2731835, esv2731837
Supporting Variants
SamplesSSM072
Known GenesHLA-DRB1, HLA-DRB5, HLA-DRB6
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)essv6798837
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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