A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6681900



Internal ID10094689
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105667160..105768230hg38UCSC Ensembl
Outerchr14:106133497..106234567hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101071
hg19101071
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2740849
Supporting Variants
SamplesSSM033
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)essv6681900
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