A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6876944



Internal ID10272730
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105657376..105756442hg38UCSC Ensembl
Outerchr14:106123713..106222779hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3899067
hg1999067
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742497
Supporting Variants
SamplesSSM092
Known GenesELK2AP
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)essv6876944
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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