A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6928222



Internal ID10037483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:105657363..105756324hg38UCSC Ensembl
Outerchr14:106123700..106222661hg19UCSC Ensembl
Cytoband14q32.33
Allele length
AssemblyAllele length
hg3898962
hg1998962
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2742942
Supporting Variants
SamplesSSM019
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)essv6928222
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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