A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6761216



Internal ID10168376
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105669970..105771509hg38UCSC Ensembl
Outerchr14:106136307..106237846hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101540
hg19101540
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2741549
Supporting Variants
SamplesSSM061
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)essv6761216
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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