A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718299



Internal ID9952590
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:19885293..19885613hg38UCSC Ensembl
Outerchr19:19996102..19996422hg19UCSC Ensembl
Cytoband19p13.11
Allele length
AssemblyAllele length
hg38321
hg19321
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735805, essv6666418, essv6716809, essv6753281, essv6756316, essv6773115, essv6764001
SamplesSSM065, SSM057, SSM058, SSM029, SSM062, SSM006, SSM049
Known GenesZNF253
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)esv2718299
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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