A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2749043



Internal ID10330013
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:94361914..94370564hg38UCSC Ensembl
Outerchr14:94828251..94836901hg19UCSC Ensembl
Cytoband14q32.13
Allele length
AssemblyAllele length
hg388651
hg198651
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6735385, essv6774964, essv6977809, essv6932186, essv6941529, essv6808498, essv6949404, essv6772378
SamplesSSM008, SSM024, SSM065, SSM009, SSM029, SSM003, SSM020, SSM049
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)esv2749043
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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