A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717753



Internal ID9952044
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:605398..608410hg38UCSC Ensembl
Outerchr19:605398..608410hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg383013
hg193013
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv483e201
Supporting Variantsessv6692398, essv6954290, essv6761623, essv6804186
SamplesSSM036, SSM073, SSM061, SSM025
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)esv2717753
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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