A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596757



Internal ID6984071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81971294..81974812hg38UCSC Ensembl
Innerchr3:81971294..81974812hg38UCSC Ensembl
Outerchr3:81970992..81975161hg38UCSC Ensembl
chr3:82020445..82023963hg19UCSC Ensembl
Innerchr3:82020445..82023963hg19UCSC Ensembl
Outerchr3:82020143..82024312hg19UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg383519
hg193519
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11054449, essv11054450
SamplesHG03224, NA18613
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596757
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer