A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6688549



Internal ID10102279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105667165..105768217hg38UCSC Ensembl
Outerchr14:106133502..106234554hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101053
hg19101053
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740909
Supporting Variants
SamplesSSM035
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)essv6688549
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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