A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15003109



Internal ID6531501
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:46513876..46526329hg38UCSC Ensembl
Innerchr14:46514376..46525829hg38UCSC Ensembl
Outerchr14:46512876..46527329hg38UCSC Ensembl
chr14:46983079..46995532hg19UCSC Ensembl
Innerchr14:46983579..46995032hg19UCSC Ensembl
Outerchr14:46982079..46996532hg19UCSC Ensembl
Cytoband14q21.2
Allele length
AssemblyAllele length
hg3812454
hg1912454
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634389
Supporting Variants
SamplesNA20581
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15003109
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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