A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3892259



Internal ID19183079
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:51797985..51808119hg38UCSC Ensembl
Outerchr2:51797985..51808119hg38UCSC Ensembl
Innerchr2:52025123..52035257hg19UCSC Ensembl
Outerchr2:52025123..52035257hg19UCSC Ensembl
Innerchr2:51878627..51888761hg18UCSC Ensembl
Outerchr2:51878627..51888761hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg3810135
hg1910135
hg1810135
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv25797030
Samples
Known Genes
MethodSNP array
Analysis
PlatformIllumina Human OmniExpress
Comments
ReferenceSuktitipat_et_al_2014
Pubmed ID25118596
Accession Number(s)esv3892259
Frequency
Sample Size3017
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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