A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6911199



Internal ID9676382
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:179337641..179338118hg38UCSC Ensembl
Outerchr5:178764642..178765119hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg38478
hg19478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731288
Supporting Variants
SamplesSSM015
Known GenesADAMTS2
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)essv6911199
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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