A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302600



Internal ID15149548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444759..72444888hg38UCSC Ensembl
Innerchr14:72444823..72444823hg38UCSC Ensembl
Outerchr14:72444659..72444988hg38UCSC Ensembl
chr14:72911467..72911596hg19UCSC Ensembl
Innerchr14:72911531..72911531hg19UCSC Ensembl
Outerchr14:72911367..72911696hg19UCSC Ensembl
chr14:71981220..71981349hg18UCSC Ensembl
Innerchr14:71981284..71981284hg18UCSC Ensembl
Outerchr14:71981120..71981449hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38130
hg19130
hg18130
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1294e59
Supporting Variantsessv7731316, essv7731181, essv7730991, essv7731460, essv7730980, essv7731551
SamplesNA12891, NA19238, NA19239, NA12878, NA12892, NA19240
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302600
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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