A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597612



Internal ID6637880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:122468372..122470279hg38UCSC Ensembl
Innerchr3:122468398..122470254hg38UCSC Ensembl
Outerchr3:122468347..122470305hg38UCSC Ensembl
chr3:122187219..122189126hg19UCSC Ensembl
Innerchr3:122187245..122189101hg19UCSC Ensembl
Outerchr3:122187194..122189152hg19UCSC Ensembl
Cytoband3q21.1
Allele length
AssemblyAllele length
hg381908
hg191908
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11123274
SamplesHG01817
Known GenesKPNA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597612
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