A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589834



Internal ID6977164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:12909494..12911388hg38UCSC Ensembl
Innerchr2:12909518..12911364hg38UCSC Ensembl
Outerchr2:12909470..12911412hg38UCSC Ensembl
chr2:13049620..13051514hg19UCSC Ensembl
Innerchr2:13049644..13051490hg19UCSC Ensembl
Outerchr2:13049596..13051538hg19UCSC Ensembl
Cytoband2p24.3
Allele length
AssemblyAllele length
hg381895
hg191895
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10412006, essv10412007
SamplesHG02813, HG02006
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589834
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