A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7730980



Internal ID15010520
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72444760..72444888hg38UCSC Ensembl
Innerchr14:72444823..72444824hg38UCSC Ensembl
Outerchr14:72444660..72444988hg38UCSC Ensembl
chr14:72911468..72911596hg19UCSC Ensembl
Innerchr14:72911531..72911532hg19UCSC Ensembl
Outerchr14:72911368..72911696hg19UCSC Ensembl
chr14:71981221..71981349hg18UCSC Ensembl
Innerchr14:71981285..71981284hg18UCSC Ensembl
Outerchr14:71981121..71981449hg18UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302600
Supporting Variants
SamplesNA19238
Known GenesRGS6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7730980
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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