A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3596274



Internal ID6983591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:59387064..59391660hg38UCSC Ensembl
Innerchr3:59387090..59391635hg38UCSC Ensembl
Outerchr3:59387039..59391686hg38UCSC Ensembl
chr3:59372790..59377386hg19UCSC Ensembl
Innerchr3:59372816..59377361hg19UCSC Ensembl
Outerchr3:59372765..59377412hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg384597
hg194597
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv892e214
Supporting Variantsessv11023444, essv11023445
SamplesHG02141, HG01600
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3596274
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