A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6855200



Internal ID10253163
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32482520..32586421hg38UCSC Ensembl
Outerchr6:32450297..32554198hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg38103902
hg19103902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731844, esv2731839, esv2731842, esv2731835, esv2731837
Supporting Variants
SamplesSSM087
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)essv6855200
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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