A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14951664



Internal ID908100
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:28678338..28683057hg38UCSC Ensembl
Innerchr14:28678382..28683014hg38UCSC Ensembl
Outerchr14:28678295..28683101hg38UCSC Ensembl
chr14:29147544..29152263hg19UCSC Ensembl
Innerchr14:29147588..29152220hg19UCSC Ensembl
Outerchr14:29147501..29152307hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg384720
hg194720
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633919
Supporting Variants
SamplesHG00533
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14951664
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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