A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11224315



Internal ID6320026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:170673486..170818914hg38UCSC Ensembl
Innerchr3:170673636..170818764hg38UCSC Ensembl
Outerchr3:170673336..170819064hg38UCSC Ensembl
chr3:170391275..170536703hg19UCSC Ensembl
Innerchr3:170391425..170536553hg19UCSC Ensembl
Outerchr3:170391125..170536853hg19UCSC Ensembl
Cytoband3q26.2
Allele length
AssemblyAllele length
hg38145429
hg19145429
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598631
Supporting Variants
SamplesNA19917
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11224315
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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