A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15080052



Internal ID2690752
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:81603131..81608644hg38UCSC Ensembl
Innerchr14:81603131..81608644hg38UCSC Ensembl
Outerchr14:81602892..81608908hg38UCSC Ensembl
chr14:82069475..82074988hg19UCSC Ensembl
Innerchr14:82069475..82074988hg19UCSC Ensembl
Outerchr14:82069236..82075252hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg385514
hg195514
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635091
Supporting Variants
SamplesHG02382
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15080052
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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