A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3589707



Internal ID6977036
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:5453526..5464614hg38UCSC Ensembl
Innerchr2:5453526..5464614hg38UCSC Ensembl
Outerchr2:5453306..5464783hg38UCSC Ensembl
chr2:5593658..5604746hg19UCSC Ensembl
Innerchr2:5593658..5604746hg19UCSC Ensembl
Outerchr2:5593438..5604915hg19UCSC Ensembl
Cytoband2p25.2
Allele length
AssemblyAllele length
hg3811089
hg1911089
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10401713
SamplesHG01842
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3589707
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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