A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11124172



Internal ID4147330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:123153111..123155007hg38UCSC Ensembl
Innerchr3:123153114..123155004hg38UCSC Ensembl
Outerchr3:123153108..123155010hg38UCSC Ensembl
chr3:122871958..122873854hg19UCSC Ensembl
Innerchr3:122871961..122873851hg19UCSC Ensembl
Outerchr3:122871955..122873857hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381897
hg191897
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597621
Supporting Variants
SamplesHG03754
Known GenesPDIA5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11124172
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