A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2717933



Internal ID10301569
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:3177734..3178211hg38UCSC Ensembl
Outerchr19:3177732..3178209hg19UCSC Ensembl
Cytoband19p13.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv491e201
Supporting Variantsessv6863546, essv6863547, essv6666357, essv6674735, essv6868356, essv6960922, essv6820818, essv6917070, essv6858678, essv6880192, essv6967405, essv6888752, essv6735782, essv6674734
SamplesSSM027, SSM087, SSM093, SSM088, SSM029, SSM096, SSM026, SSM089, SSM031, SSM078, SSM016, SSM049
Known Genes
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)esv2717933
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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