A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718908



Internal ID9953200
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:54693087..54693267hg38UCSC Ensembl
Outerchr19:55204852..55205032hg19UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38181
hg19181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6710379, essv6824717, essv6666549, essv6909836, essv6689098
SamplesSSM079, SSM041, SSM029, SSM035, SSM014
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)esv2718908
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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