A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6667536



Internal ID10084591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32481939..32569616hg38UCSC Ensembl
Outerchr6:32449716..32537393hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3887678
hg1987678
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731844, esv2731839, esv2731841, esv2731842, esv2731843, esv2731835, esv2731837, esv2731845, esv2731836, esv2731834, esv2731838
Supporting Variants
SamplesSSM030
Known GenesHLA-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)essv6667536
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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