A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14974726



Internal ID6319374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:39097853..39102003hg38UCSC Ensembl
Innerchr14:39097921..39101936hg38UCSC Ensembl
Outerchr14:39097786..39102071hg38UCSC Ensembl
chr14:39567057..39571207hg19UCSC Ensembl
Innerchr14:39567125..39571140hg19UCSC Ensembl
Outerchr14:39566990..39571275hg19UCSC Ensembl
Cytoband14q21.1
Allele length
AssemblyAllele length
hg384151
hg194151
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634138
Supporting Variants
SamplesNA19917
Known GenesSEC23A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14974726
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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