A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15036746



Internal ID1129490
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:62166820..62324145hg38UCSC Ensembl
Innerchr14:62166970..62323995hg38UCSC Ensembl
Outerchr14:62166670..62324295hg38UCSC Ensembl
chr14:62633538..62790863hg19UCSC Ensembl
Innerchr14:62633688..62790713hg19UCSC Ensembl
Outerchr14:62633388..62791013hg19UCSC Ensembl
Cytoband14q23.2
Allele length
AssemblyAllele length
hg38157326
hg19157326
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634702
Supporting Variants
SamplesHG00851
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15036746
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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