A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6907520



Internal ID10019770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32480788..32568456hg38UCSC Ensembl
Outerchr6:32448565..32536233hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3887669
hg1987669
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
SamplesSSM014
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)essv6907520
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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