A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11172889



Internal ID1174705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:146201850..146204367hg38UCSC Ensembl
Innerchr3:146201871..146204347hg38UCSC Ensembl
Outerchr3:146201830..146204388hg38UCSC Ensembl
chr3:145919637..145922154hg19UCSC Ensembl
Innerchr3:145919658..145922134hg19UCSC Ensembl
Outerchr3:145919617..145922175hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg382518
hg192518
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598087
Supporting Variants
SamplesHG04118
Known GenesPLSCR4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11172889
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