A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6709739



Internal ID9774455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr14:65611068..65611459hg38UCSC Ensembl
Outerchr14:66077786..66078177hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg38392
hg19392
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2748797, esv2748798, esv2748779
Supporting Variants
SamplesSSM041
Known GenesFUT8
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)essv6709739
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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