A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719059



Internal ID10302695
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:57017711..57017910hg38UCSC Ensembl
Outerchr19:57529079..57529278hg19UCSC Ensembl
Cytoband19q13.43
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6797200, essv6714008
SamplesSSM071, SSM042
Known Genes
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)esv2719059
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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