A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6842696



Internal ID10241909
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:20830709..20834060hg38UCSC Ensembl
Outerchr14:21298868..21302219hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg383352
hg193352
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748447
Supporting Variants
SamplesSSM084
Known Genes
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)essv6842696
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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