A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14966812



Internal ID2386050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:35136233..35145990hg38UCSC Ensembl
Innerchr14:35136733..35145490hg38UCSC Ensembl
Outerchr14:35135233..35146990hg38UCSC Ensembl
chr14:35605439..35615196hg19UCSC Ensembl
Innerchr14:35605939..35614696hg19UCSC Ensembl
Outerchr14:35604439..35616196hg19UCSC Ensembl
Cytoband14q13.2
Allele length
AssemblyAllele length
hg389758
hg199758
Variant TypeCNV loss
Copy Number
Allele StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634050
Supporting Variants
SamplesHG02113
Known GenesKIAA0391
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14966812
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