A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2732534



Internal ID10316170
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:105909215..105909910hg38UCSC Ensembl
Outerchr6:106357090..106357785hg19UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg38696
hg19696
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6929374, essv6687311, essv6774654, essv6671205, essv6974902, essv6761620, essv6745999
SamplesSSM008, SSM029, SSM035, SSM003, SSM031, SSM066, SSM055
Known Genes
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)esv2732534
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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