A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6772379



Internal ID10178863
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:96708613..96709062hg38UCSC Ensembl
Outerchr14:97174950..97175399hg19UCSC Ensembl
Cytoband14q32.2
Allele length
AssemblyAllele length
hg38450
hg19450
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2749065, esv2749064
Supporting Variants
SamplesSSM065
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)essv6772379
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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