A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737180



Internal ID10320816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:74958737..74959121hg38UCSC Ensembl
Outerchr8:75870972..75871356hg19UCSC Ensembl
Cytoband8q21.11
Allele length
AssemblyAllele length
hg38385
hg19385
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6701781, essv6904358, essv6795375, essv6944215
SamplesSSM071, SSM039, SSM013, SSM023
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)esv2737180
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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