A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2661378



Internal ID9927483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26153223..26156005hg38UCSC Ensembl
chr2:26376092..26378874hg19UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg382783
hg192783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6195083, essv5793110, essv6281577, essv6030183, essv5721271, essv5694751, essv5488710, essv5621633, essv5620398, essv5551756, essv5639310, essv6385183, essv6236386, essv6597577, essv5745898, essv5492816, essv5554007, essv5577168, essv5925481
SamplesNA18861, NA18510, NA19379, NA19319, NA19404, NA18868, NA19239, NA19456, NA19455, NA19453, NA19436, NA19147, NA19712, NA19434, NA19444, NA19439, NA19376, NA19472, NA18511
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2661378
Frequency
Sample Size1151
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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