A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6941307



Internal ID9642238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65139644..65141372hg38UCSC Ensembl
Outerchr14:65606362..65608090hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg381729
hg191729
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748791, esv2748779
Supporting Variants
SamplesSSM003
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)essv6941307
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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