A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15011012



Internal ID589650
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:52155785..52156134hg38UCSC Ensembl
Innerchr14:52155788..52156132hg38UCSC Ensembl
Outerchr14:52155783..52156137hg38UCSC Ensembl
chr14:52622503..52622852hg19UCSC Ensembl
Innerchr14:52622506..52622850hg19UCSC Ensembl
Outerchr14:52622501..52622855hg19UCSC Ensembl
Cytoband14q22.1
Allele length
AssemblyAllele length
hg38350
hg19350
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3634517
Supporting Variants
SamplesHG00258
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15011012
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