A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597950



Internal ID6985087
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140149050..140153394hg38UCSC Ensembl
Innerchr3:140149075..140153369hg38UCSC Ensembl
Outerchr3:140149025..140153419hg38UCSC Ensembl
chr3:139867892..139872236hg19UCSC Ensembl
Innerchr3:139867917..139872211hg19UCSC Ensembl
Outerchr3:139867867..139872261hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg384345
hg194345
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11161197
SamplesHG03583
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597950
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