A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14960682



Internal ID2780604
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:33184138..33209348hg38UCSC Ensembl
Innerchr14:33184144..33209343hg38UCSC Ensembl
Outerchr14:33184133..33209354hg38UCSC Ensembl
chr14:33653344..33678554hg19UCSC Ensembl
Innerchr14:33653350..33678549hg19UCSC Ensembl
Outerchr14:33653339..33678560hg19UCSC Ensembl
Cytoband14q13.1
Allele length
AssemblyAllele length
hg3825211
hg1925211
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634001
Supporting Variants
SamplesHG02455
Known GenesNPAS3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14960682
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer