A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15042952



Internal ID2156559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:65120830..65126216hg38UCSC Ensembl
Innerchr14:65120980..65126066hg38UCSC Ensembl
Outerchr14:65120680..65126366hg38UCSC Ensembl
chr14:65587548..65592934hg19UCSC Ensembl
Innerchr14:65587698..65592784hg19UCSC Ensembl
Outerchr14:65587398..65593084hg19UCSC Ensembl
Cytoband14q23.3
Allele length
AssemblyAllele length
hg385387
hg195387
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634763
Supporting Variants
SamplesHG01950
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15042952
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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