A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2747324



Internal ID9981608
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43470199..43470491hg38UCSC Ensembl
Outerchr13:44044335..44044627hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38293
hg19293
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6959520, essv6772216, essv6673391, essv6731819, essv6806485, essv6857443, essv6851446, essv6713133, essv6702604, essv6819881, essv6977500, essv6924489
SamplesSSM065, SSM086, SSM042, SSM078, SSM031, SSM001, SSM039, SSM029, SSM087, SSM074, SSM026, SSM018
Known GenesENOX1
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)esv2747324
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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