A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6808287



Internal ID9657140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65060399..65060817hg38UCSC Ensembl
Outerchr14:65527117..65527535hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38419
hg19419
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748787, esv2748779
Supporting Variants
SamplesSSM009
Known GenesCHURC1-FNTB, FNTB, MAX
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)essv6808287
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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