A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718468



Internal ID9952759
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:33160973..33161793hg38UCSC Ensembl
Outerchr19:33651879..33652699hg19UCSC Ensembl
Cytoband19q13.11
Allele length
AssemblyAllele length
hg38821
hg19821
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6750395, essv6892102, essv6901397, essv6746198, essv6967498
SamplesSSM007, SSM027, SSM097, SSM100, SSM056
Known GenesWDR88
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)esv2718468
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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