A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3634195



Internal ID7020999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41002796..41016432hg38UCSC Ensembl
Innerchr14:41002808..41016420hg38UCSC Ensembl
Outerchr14:41002784..41016444hg38UCSC Ensembl
chr14:41472001..41485637hg19UCSC Ensembl
Innerchr14:41472013..41485625hg19UCSC Ensembl
Outerchr14:41471989..41485649hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3813637
hg1913637
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14985043, essv14985046, essv14985044, essv14985045, essv14985054, essv14985050, essv14985049, essv14985052, essv14985047, essv14985042, essv14985053, essv14985057, essv14985051, essv14985055, essv14985056, essv14985048
SamplesNA19916, NA19451, HG01095, HG02511, HG01675, HG03311, HG02585, HG02484, NA19017, NA18909, NA19144, HG02982, HG03127, NA19428, HG02013, HG02861
Known GenesLOC644919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3634195
Frequency
Sample Size2504
Observed Gain0
Observed Loss16
Observed Complex0
Frequencyn/a


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