A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6689532



Internal ID9993701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105667185..105768029hg38UCSC Ensembl
Outerchr14:106133522..106234366hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38100845
hg19100845
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740926
Supporting Variants
SamplesSSM005
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)essv6689532
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer