A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14942630



Internal ID1120374
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:24531351..24549982hg38UCSC Ensembl
Innerchr14:24531351..24549982hg38UCSC Ensembl
Outerchr14:24530851..24550482hg38UCSC Ensembl
chr14:25000557..25019188hg19UCSC Ensembl
Innerchr14:25000557..25019188hg19UCSC Ensembl
Outerchr14:25000057..25019688hg19UCSC Ensembl
Cytoband14q12
Allele length
AssemblyAllele length
hg3818632
hg1918632
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3633810
Supporting Variants
SamplesHG00759
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14942630
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