A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743032



Internal ID9977316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42788321..43286089hg38UCSC Ensembl
Outerchr19:43292473..43790241hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38497769
hg19497769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523e201
Supporting Variantsessv6937354
SamplesSSM021
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG9
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)esv2743032
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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