A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676460



Internal ID9942565
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:54876639..54877563hg38UCSC Ensembl
Outerchr1:54876482..54877716hg38UCSC Ensembl
Innerchr1:55342312..55343236hg19UCSC Ensembl
Outerchr1:55342155..55343389hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg381235
hg191235
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6226790, essv6526572, essv5962260, essv6568879, essv5784729, essv6022212, essv5960457, essv6195246, essv5795367, essv6408684, essv6481077, essv6534029, essv6052119, essv5993320, essv6054041, essv5653198, essv5613587, essv6485984, essv5608468, essv6022521, essv5785366, essv5575994, essv5456099, essv6453497, essv5663122, essv6020324, essv6546830, essv6553594, essv6566688, essv6100211, essv5682859, essv6402829, essv6527561, essv6218777
SamplesHG00403, NA19058, NA19397, NA19066, NA19332, NA19350, NA19057, NA18616, HG00654, NA18988, HG00590, NA19075, NA18986, HG00560, NA19070, HG00577, HG00701, HG00584, HG00583, NA19084, NA19003, HG00476, NA19072, NA18950, HG00580, HG00418, NA18615, HG00620, HG00672, NA19080, NA18983, HG00595, NA18989, NA18549
Known GenesDHCR24
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676460
Frequency
Sample Size1151
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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