A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717747



Internal ID9952038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:602766..603515hg38UCSC Ensembl
Outerchr19:602766..603515hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38750
hg19750
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv482e201
Supporting Variantsessv6835816, essv6880183, essv6674720, essv6784589, essv6801257, essv6946068
SamplesSSM093, SSM023, SSM031, SSM068, SSM072, SSM082
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)esv2717747
Frequency
Sample Size96
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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