A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3302679



Internal ID15149627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:36810878..36810967hg38UCSC Ensembl
Innerchr14:36810922..36810922hg38UCSC Ensembl
Outerchr14:36810778..36811067hg38UCSC Ensembl
chr14:37280083..37280172hg19UCSC Ensembl
Innerchr14:37280127..37280127hg19UCSC Ensembl
Outerchr14:37279983..37280272hg19UCSC Ensembl
chr14:36349834..36349923hg18UCSC Ensembl
Innerchr14:36349878..36349878hg18UCSC Ensembl
Outerchr14:36349734..36350023hg18UCSC Ensembl
Cytoband14q13.3
Allele length
AssemblyAllele length
hg3890
hg1990
hg1890
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7731541, essv7731481, essv7731328
SamplesNA19239, NA12878, NA19240
Known GenesSLC25A21
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3302679
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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