A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737305



Internal ID9971642
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:92949516..92949983hg38UCSC Ensembl
Outerchr8:93961744..93962211hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg38468
hg19468
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6856252, essv6976021, essv6672158, essv6768050, essv6873267, essv6701796
SamplesSSM091, SSM064, SSM031, SSM039, SSM029, SSM087
Known GenesTRIQK
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)esv2737305
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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