A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14946752



Internal ID5050807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:26291314..26324396hg38UCSC Ensembl
Innerchr14:26291329..26324382hg38UCSC Ensembl
Outerchr14:26291300..26324411hg38UCSC Ensembl
chr14:26760520..26793602hg19UCSC Ensembl
Innerchr14:26760535..26793588hg19UCSC Ensembl
Outerchr14:26760506..26793617hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3833083
hg1933083
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633845
Supporting Variants
SamplesNA18532
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14946752
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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