A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2741164



Internal ID9975488
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:42763115..43266905hg38UCSC Ensembl
Outerchr19:43267267..43771057hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg38503791
hg19503791
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv523e201
Supporting Variantsessv6717862
SamplesSSM043
Known GenesLOC100289650, LOC284344, PSG1, PSG10P, PSG11, PSG2, PSG4, PSG5, PSG6, PSG7, PSG8, 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)esv2741164
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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