A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6744209



Internal ID10152904
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:35136458..35146038hg38UCSC Ensembl
Outerchr14:35605664..35615244hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg389581
hg199581
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748595
Supporting Variants
SamplesSSM053
Known GenesKIAA0391
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)essv6744209
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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