A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6717091



Internal ID9782177
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:73530336..73558188hg38UCSC Ensembl
Outerchr14:73997040..74024892hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg3827853
hg1927853
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748867
Supporting Variants
SamplesSSM043
Known GenesACOT1, HEATR4
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)essv6717091
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