A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737521



Internal ID10321157
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:122127844..122129126hg38UCSC Ensembl
Outerchr8:123140083..123141365hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg381283
hg191283
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6787149, essv6838078, essv6897229, essv6760569
SamplesSSM083, SSM069, SSM061, SSM099
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)esv2737521
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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