A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6857443



Internal ID9908497
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:43470247..43470396hg38UCSC Ensembl
Outerchr13:44044383..44044532hg19UCSC Ensembl
Cytoband13q14.11
Allele length
AssemblyAllele length
hg38150
hg19150
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747324
Supporting Variants
SamplesSSM087
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)essv6857443
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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