A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6945148



Internal ID10053766
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr13:80426072..80426190hg38UCSC Ensembl
Outerchr13:81000207..81000325hg19UCSC Ensembl
Cytoband13q31.1
Allele length
AssemblyAllele length
hg38119
hg19119
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2747716, esv2747714, esv2747715
Supporting Variants
SamplesSSM023
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)essv6945148
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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