A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15077011



Internal ID5078827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:80868616..80876285hg38UCSC Ensembl
Innerchr14:80868639..80876262hg38UCSC Ensembl
Outerchr14:80868593..80876308hg38UCSC Ensembl
chr14:81334960..81342629hg19UCSC Ensembl
Innerchr14:81334983..81342606hg19UCSC Ensembl
Outerchr14:81334937..81342652hg19UCSC Ensembl
Cytoband14q31.1
Allele length
AssemblyAllele length
hg387670
hg197670
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635079
Supporting Variants
SamplesNA18599
Known GenesCEP128
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15077011
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