A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6779732



Internal ID9838554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65060390..65060737hg38UCSC Ensembl
Outerchr14:65527108..65527455hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38348
hg19348
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748787, esv2748779
Supporting Variants
SamplesSSM067
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)essv6779732
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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