A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2736099



Internal ID10319735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr8:965351..965795hg38UCSC Ensembl
Outerchr8:915351..915795hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38445
hg19445
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1173e201
Supporting Variantsessv6749166, essv6939601, essv6919437, essv6720002, essv6811728, essv6964613
SamplesSSM027, SSM017, SSM044, SSM076, SSM022, SSM056
Known GenesERICH1-AS1
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)esv2736099
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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