A curated catalogue of human genomic structural variation




Variant Details

Variant: essv15069415



Internal ID5071231
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:77486573..77488672hg38UCSC Ensembl
Innerchr14:77486589..77488656hg38UCSC Ensembl
Outerchr14:77486557..77488688hg38UCSC Ensembl
chr14:77952916..77955015hg19UCSC Ensembl
Innerchr14:77952932..77954999hg19UCSC Ensembl
Outerchr14:77952900..77955031hg19UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg382100
hg192100
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3635005
Supporting Variants
SamplesHG04035
Known GenesISM2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv15069415
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