A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737143



Internal ID9971479
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:70281661..70281818hg38UCSC Ensembl
Outerchr8:71193896..71194053hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg38158
hg19158
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6808907
SamplesSSM075
Known GenesNCOA2
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)esv2737143
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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