A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737891



Internal ID10321527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142481951..142482787hg38UCSC Ensembl
Outerchr8:143563312..143564148hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38837
hg19837
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6795463, essv6841927
SamplesSSM071, SSM084
Known GenesBAI1
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)esv2737891
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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