A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6784589



Internal ID9841620
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:602799..603516hg38UCSC Ensembl
Outerchr19:602799..603516hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38718
hg19718
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2717747, esv2717745
Supporting Variants
SamplesSSM068
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)essv6784589
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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