A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14985048



Internal ID3248002
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:41002796..41016432hg38UCSC Ensembl
Innerchr14:41002808..41016420hg38UCSC Ensembl
Outerchr14:41002784..41016444hg38UCSC Ensembl
chr14:41472001..41485637hg19UCSC Ensembl
Innerchr14:41472013..41485625hg19UCSC Ensembl
Outerchr14:41471989..41485649hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg3813637
hg1913637
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634195
Supporting Variants
SamplesHG02861
Known GenesLOC644919
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14985048
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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