A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595370



Internal ID6982688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:14548332..14569825hg38UCSC Ensembl
Innerchr3:14548482..14569675hg38UCSC Ensembl
Outerchr3:14548182..14569975hg38UCSC Ensembl
chr3:14589839..14611332hg19UCSC Ensembl
Innerchr3:14589989..14611182hg19UCSC Ensembl
Outerchr3:14589689..14611482hg19UCSC Ensembl
Cytoband3p25.1
Allele length
AssemblyAllele length
hg3821494
hg1921494
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv871e214
Supporting Variantsessv10932594, essv10932592, essv10932597, essv10932596, essv10932593, essv10932595
SamplesHG01918, HG02266, HG02253, HG01921, NA19652, HG01342
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595370
Frequency
Sample Size2504
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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