A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6838949



Internal ID10238724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105669929..105771505hg38UCSC Ensembl
Outerchr14:106136266..106237842hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg38101577
hg19101577
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742245
Supporting Variants
SamplesSSM083
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)essv6838949
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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