A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591039



Internal ID6978367
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:62384619..62387618hg38UCSC Ensembl
Innerchr2:62384619..62387618hg38UCSC Ensembl
Outerchr2:62384119..62388118hg38UCSC Ensembl
chr2:62611754..62614753hg19UCSC Ensembl
Innerchr2:62611754..62614753hg19UCSC Ensembl
Outerchr2:62611254..62615253hg19UCSC Ensembl
Cytoband2p15
Allele length
AssemblyAllele length
hg383000
hg193000
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10522142, essv10522145, essv10522133, essv10522151, essv10522143, essv10522141, essv10522138, essv10522150, essv10522137, essv10522135, essv10522146, essv10522140, essv10522149, essv10522134, essv10522144, essv10522148, essv10522136, essv10522139, essv10522147
SamplesHG03300, HG03074, HG03499, NA19119, HG01398, HG03045, HG03114, HG03061, NA19118, HG01707, HG02283, NA18853, HG03571, HG01890, HG01708, NA19439, NA20357, NA19223, HG02051
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591039
Frequency
Sample Size2504
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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