A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633715



Internal ID6673835
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21452798..21453997hg38UCSC Ensembl
Innerchr14:21452820..21453975hg38UCSC Ensembl
Outerchr14:21452776..21454019hg38UCSC Ensembl
chr14:21920957..21922156hg19UCSC Ensembl
Innerchr14:21920979..21922134hg19UCSC Ensembl
Outerchr14:21920935..21922178hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381200
hg191200
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14928200, essv14928217, essv14928206, essv14928208, essv14928218, essv14928199, essv14928223, essv14928233, essv14928211, essv14928196, essv14928228, essv14928220, essv14928224, essv14928232, essv14928189, essv14928231, essv14928194, essv14928207, essv14928205, essv14928201, essv14928187, essv14928219, essv14928188, essv14928215, essv14928191, essv14928195, essv14928214, essv14928204, essv14928193, essv14928198, essv14928213, essv14928222, essv14928209, essv14928225, essv14928227, essv14928216, essv14928221, essv14928210, essv14928229, essv14928190, essv14928212, essv14928192, essv14928230, essv14928203, essv14928226, essv14928202, essv14928197, essv14928186
SamplesHG03514, HG02339, NA20339, NA18861, NA18508, NA18877, HG03115, HG01305, NA20321, HG03295, HG03515, HG02810, NA19448, HG02541, HG02595, NA19131, HG03479, NA18864, NA20318, NA19908, HG03291, HG02511, NA19043, HG02108, HG03027, HG03563, HG03472, NA18499, HG02283, NA19452, HG03109, HG01990, NA20296, NA19037, HG02923, HG03433, NA19360, HG03103, NA19818, HG03157, HG02938, HG02053, HG03401, NA19900, NA18505, HG02855, HG02808, HG03118
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633715
Frequency
Sample Size2504
Observed Gain0
Observed Loss48
Observed Complex0
Frequencyn/a


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