A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6950173



Internal ID9707466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:21584199..21584604hg38UCSC Ensembl
Outerchr19:21767001..21767406hg19UCSC Ensembl
Cytoband19p12
Allele length
AssemblyAllele length
hg38406
hg19406
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718335, esv2718325, esv2718337, esv2718341
Supporting Variants
SamplesSSM024
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)essv6950173
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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