A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718499



Internal ID10302135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:35767266..35767637hg38UCSC Ensembl
Outerchr19:36258167..36258538hg19UCSC Ensembl
Cytoband19q13.12
Allele length
AssemblyAllele length
hg38372
hg19372
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6971946
SamplesSSM028
Known GenesC19orf55
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)esv2718499
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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