A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659381



Internal ID9925487
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:61237786..61237928hg38UCSC Ensembl
chr8:62150345..62150487hg19UCSC Ensembl
Cytoband8q12.2
Allele length
AssemblyAllele length
hg38143
hg19143
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5952292, essv5802268, essv6550581, essv6558098, essv6355657, essv5956195, essv5920520, essv5643580, essv5741893, essv6031156, essv6554638, essv6418150, essv5844211, essv6472395, essv6282663, essv5491580, essv5457587, essv6477754, essv5408786, essv5579550, essv5729993, essv5948628, essv6587985, essv5471066, essv5753642, essv5623262, essv5612203, essv5587080, essv5614966, essv6503230, essv5625211, essv5899545, essv6047306, essv5607428, essv6446200, essv6338209, essv5960030, essv5803094, essv5492269, essv6347216, essv5421336, essv6215267, essv5699194, essv5507537, essv5692276
SamplesHG00442, NA18561, NA18988, NA18627, NA18563, NA18944, HG01366, NA18567, NA18619, NA19062, NA18582, NA19054, NA18949, NA18560, HG00534, HG00422, NA18986, NA18557, NA18985, HG00543, NA18991, HG00475, HG01498, NA19084, HG00404, HG00531, NA19059, NA18536, NA18546, HG00611, NA18961, HG01357, HG00662, HG00620, NA19078, HG00614, NA18631, HG00656, NA18609, NA18983, HG01251, NA18989, NA19063, NA18562, NA18965
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659381
Frequency
Sample Size1151
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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