A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15005297



Internal ID5995726
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:50251145..50260350hg38UCSC Ensembl
Innerchr14:50251145..50260350hg38UCSC Ensembl
Outerchr14:50250909..50260520hg38UCSC Ensembl
chr14:50717863..50727068hg19UCSC Ensembl
Innerchr14:50717863..50727068hg19UCSC Ensembl
Outerchr14:50717627..50727238hg19UCSC Ensembl
Cytoband14q21.3
Allele length
AssemblyAllele length
hg389206
hg199206
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634474
Supporting Variants
SamplesNA19397
Known GenesL2HGDH
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15005297
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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