A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761623



Internal ID9822056
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:605410..605722hg38UCSC Ensembl
Outerchr19:605410..605722hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38313
hg19313
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717750, esv2717753, esv2717752, esv2717754
Supporting Variants
SamplesSSM061
Known GenesHCN2
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)essv6761623
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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