A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633712



Internal ID6673832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21355404..21356651hg38UCSC Ensembl
Innerchr14:21355422..21356634hg38UCSC Ensembl
Outerchr14:21355387..21356669hg38UCSC Ensembl
chr14:21823563..21824810hg19UCSC Ensembl
Innerchr14:21823581..21824793hg19UCSC Ensembl
Outerchr14:21823546..21824828hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg381248
hg191248
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14928159, essv14928157, essv14928160, essv14928158
SamplesHG01985, NA19201, NA19113, NA19318
Known GenesSUPT16H
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633712
Frequency
Sample Size2504
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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