A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674438



Internal ID9940543
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47877930..47878609hg38UCSC Ensembl
chr2:48105069..48105748hg19UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg38680
hg19680
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6563006, essv6205757, essv6163196, essv5429915, essv6564715, essv5718726, essv5839745, essv5623338, essv6223806, essv5600029, essv5607955, essv5500333, essv6257086, essv5443821, essv5771732, essv6280644, essv5993745, essv5700306, essv5769713, essv6122214, essv6145145
SamplesNA12751, NA19057, NA19920, NA19649, NA07048, HG00346, NA06984, HG00262, NA11994, NA12889, HG00253, HG00268, NA20787, NA18579, NA11919, HG00146, NA19835, NA07037, HG00513, HG00280, NA19661
Known GenesFBXO11
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674438
Frequency
Sample Size1151
Observed Gain0
Observed Loss21
Observed Complex0
Frequencyn/a


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