A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2737920



Internal ID10321556
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:142678481..142678887hg38UCSC Ensembl
Outerchr8:143759899..143760305hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38407
hg19407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1235e201
Supporting Variantsessv6799645, essv6861728
SamplesSSM088, SSM072
Known GenesPSCA
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)esv2737920
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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