A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717826



Internal ID9782838
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21331122..21331407hg38UCSC Ensembl
Outerchr19:21513924..21514209hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38286
hg19286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718325, esv2718329
Supporting Variants
SamplesSSM043
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)essv6717826
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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