A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6751561



Internal ID10159480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:32477181..32565093hg38UCSC Ensembl
Outerchr6:32444958..32532870hg19UCSC Ensembl
Cytoband6p21.32
Allele length
AssemblyAllele length
hg3887913
hg1987913
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
SamplesSSM057
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)essv6751561
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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