A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14926100



Internal ID4927916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:21222351..21227315hg38UCSC Ensembl
Innerchr14:21222351..21227315hg38UCSC Ensembl
Outerchr14:21222189..21227375hg38UCSC Ensembl
chr14:21690510..21695474hg19UCSC Ensembl
Innerchr14:21690510..21695474hg19UCSC Ensembl
Outerchr14:21690348..21695534hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg384965
hg194965
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633707
Supporting Variants
SamplesNA19383
Known GenesHNRNPC
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14926100
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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