A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15027578



Internal ID2063599
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:59457365..59460789hg38UCSC Ensembl
Innerchr14:59457389..59460765hg38UCSC Ensembl
Outerchr14:59457341..59460813hg38UCSC Ensembl
chr14:59924083..59927507hg19UCSC Ensembl
Innerchr14:59924107..59927483hg19UCSC Ensembl
Outerchr14:59924059..59927531hg19UCSC Ensembl
Cytoband14q23.1
Allele length
AssemblyAllele length
hg383425
hg193425
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634651
Supporting Variants
SamplesHG01880
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15027578
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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