A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623178



Internal ID6663346
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49887041..49929088hg38UCSC Ensembl
chr10:51095087..51137134hg19UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg3842048
hg1942048
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13797069, essv13797116, essv13797093, essv13797133, essv13797098, essv13797073, essv13797077, essv13797067, essv13797075, essv13797095, essv13797097, essv13797106, essv13797080, essv13797076, essv13797084, essv13797125, essv13797120, essv13797104, essv13797114, essv13797099, essv13797070, essv13797127, essv13797096, essv13797088, essv13797078, essv13797102, essv13797131, essv13797071, essv13797108, essv13797089, essv13797130, essv13797118, essv13797107, essv13797126, essv13797082, essv13797129, essv13797074, essv13797083, essv13797062, essv13797064, essv13797124, essv13797072, essv13797115, essv13797103, essv13797123, essv13797119, essv13797101, essv13797094, essv13797079, essv13797113, essv13797081, essv13797112, essv13797091, essv13797132, essv13797066, essv13797109, essv13797111, essv13797092, essv13797105, essv13797087, essv13797122, essv13797063, essv13797128, essv13797065, essv13797068, essv13797110, essv13797061, essv13797086, essv13797090, essv13797100, essv13797121, essv13797085, essv13797117
SamplesHG01357, HG02666, HG03135, NA18647, HG02166, HG02810, HG02675, NA18520, HG02330, HG02371, NA18534, HG01873, HG00596, HG03410, HG02088, NA19435, HG00475, HG02946, HG03571, NA20894, HG02977, NA19210, NA19761, NA21106, HG02836, NA20854, HG03054, HG02554, HG02577, HG02032, HG01088, HG02861, HG03052, HG00634, HG02595, NA18634, HG02737, HG02757, HG03895, NA19759, HG02541, HG02922, HG03649, NA20334, NA18510, HG02573, HG03097, NA18858, NA18961, HG01494, NA18974, HG01971, HG03045, HG01872, HG02953, NA20298, HG03872, HG03999, NA18879, HG03615, NA19770, HG03259, NA19655, HG00708, HG02476, HG03372, HG02136, HG03012, HG03885, HG04171, NA19185, NA19007, NA19922
Known GenesPARG
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623178
Frequency
Sample Size2504
Observed Gain73
Observed Loss0
Observed Complex0
Frequencyn/a


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