A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2658933



Internal ID9925038
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:191346896..191353886hg38UCSC Ensembl
chr3:191064685..191071675hg19UCSC Ensembl
Cytoband3q28
Allele length
AssemblyAllele length
hg386991
hg196991
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv903e199
Supporting Variantsessv6490275, essv5934035, essv5708616, essv6470273, essv5772441, essv5414026, essv5561711, essv5748053, essv6040708, essv5702064, essv6597044, essv5477230, essv6557858, essv6127325, essv5823453, essv5693809, essv6138850, essv6134381, essv6121556, essv6564176, essv5789018, essv5893670, essv5477159, essv6224858, essv6528518, essv5487630, essv6349802, essv5559328, essv5960961, essv5662651, essv6443155, essv5932861, essv6569873, essv5949585, essv5430745, essv6442844, essv5993468, essv5623877, essv6042397, essv6018060, essv6597550, essv5767186, essv5415224, essv6086727, essv6314801, essv5506063, essv6276473, essv6523987, essv6173495, essv5854418, essv6035005, essv5971667, essv6539030, essv6489692, essv6336706, essv6535743, essv6070528, essv6119396, essv6090664, essv6163508, essv6103196, essv6355761, essv6418786, essv5423732, essv5473920, essv6549172, essv6033087
SamplesNA20529, NA20766, HG01052, NA20783, HG01079, NA20514, NA20816, NA20813, NA20532, NA20512, HG00640, NA20507, NA20771, NA20806, NA20814, NA20796, HG01070, NA20798, NA20586, NA20795, NA20540, NA20513, NA20759, HG01069, HG01080, NA20775, NA20812, HG01072, HG01198, HG00637, NA20757, NA20533, NA20515, HG01183, NA20535, HG01171, NA20787, NA20524, NA20505, NA20536, NA20506, NA20770, HG01047, NA20581, HG01101, NA20828, NA20542, HG01107, HG01204, NA20773, NA20522, HG01190, HG00734, NA20804, NA20520, NA20778, NA20516, NA20803, NA20510, NA20807, NA20826, NA20503, HG01097, NA20754, HG01061, HG00553, NA20509
Known GenesCCDC50
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2658933
Frequency
Sample Size1151
Observed Gain0
Observed Loss67
Observed Complex0
Frequencyn/a


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