A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941491



Internal ID9702860
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54109649..54110014hg38UCSC Ensembl
Outerchr19:54612956..54613397hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38366
hg19442
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2718853, esv2718812
Supporting Variants
SamplesSSM022
Known GenesTFPT
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)essv6941491
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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