A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718713



Internal ID9953005
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:49388791..49389493hg38UCSC Ensembl
Outerchr19:49892048..49892750hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg38703
hg19703
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6781933, essv6921404
SamplesSSM017, SSM008
Known GenesCCDC155
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)esv2718713
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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