A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3591252



Internal ID6978580
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:72879022..72881497hg38UCSC Ensembl
Innerchr2:72879022..72881497hg38UCSC Ensembl
Outerchr2:72878833..72881755hg38UCSC Ensembl
chr2:73106151..73108626hg19UCSC Ensembl
Innerchr2:73106151..73108626hg19UCSC Ensembl
Outerchr2:73105962..73108884hg19UCSC Ensembl
Cytoband2p13.2
Allele length
AssemblyAllele length
hg382476
hg192476
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10540380, essv10540378, essv10540379, essv10540376, essv10540381, essv10540377
SamplesNA18959, NA18614, HG01857, NA19012, NA18646, NA18941
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3591252
Frequency
Sample Size2504
Observed Gain0
Observed Loss6
Observed Complex0
Frequencyn/a


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