A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15055489



Internal ID4844238
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:72620736..72622607hg38UCSC Ensembl
Innerchr14:72620742..72622601hg38UCSC Ensembl
Outerchr14:72620730..72622613hg38UCSC Ensembl
chr14:73087444..73089315hg19UCSC Ensembl
Innerchr14:73087450..73089309hg19UCSC Ensembl
Outerchr14:73087438..73089321hg19UCSC Ensembl
Cytoband14q24.2
Allele length
AssemblyAllele length
hg381872
hg191872
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634891
Supporting Variants
SamplesNA12156
Known GenesDPF3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15055489
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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