A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14925590



Internal ID2603375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:20840153..20846667hg38UCSC Ensembl
Innerchr14:20840153..20846667hg38UCSC Ensembl
Outerchr14:20839653..20847167hg38UCSC Ensembl
chr14:21308312..21314826hg19UCSC Ensembl
Innerchr14:21308312..21314826hg19UCSC Ensembl
Outerchr14:21307812..21315326hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg386515
hg196515
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633692
Supporting Variants
SamplesHG02307
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14925590
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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