A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3590494



Internal ID6977823
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:41981625..42012697hg38UCSC Ensembl
Innerchr2:41981625..42012697hg38UCSC Ensembl
Outerchr2:41981125..42013197hg38UCSC Ensembl
chr2:42208765..42239837hg19UCSC Ensembl
Innerchr2:42208765..42239837hg19UCSC Ensembl
Outerchr2:42208265..42240337hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg3831073
hg1931073
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10478248
SamplesHG03280
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3590494
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