A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6741884



Internal ID9804408
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21584144..21584598hg38UCSC Ensembl
Outerchr19:21766946..21767400hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38455
hg19455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718335, esv2718325, esv2718337, esv2718341
Supporting Variants
SamplesSSM052
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)essv6741884
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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