A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717745



Internal ID9952036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:602720..603535hg38UCSC Ensembl
Outerchr19:602720..603535hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38816
hg19816
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv482e201
Supporting Variantsessv6835816, essv6880183, essv6674720, essv6784589, essv6801257, essv6946068, essv6967379, essv6941372, essv6696635
SamplesSSM027, SSM093, SSM023, SSM031, SSM068, SSM072, SSM082, SSM037, SSM022
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)esv2717745
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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