A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674492



Internal ID9593911
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4279595..4280164hg38UCSC Ensembl
chr12:4388761..4389330hg19UCSC Ensembl
Cytoband12p13.32
Allele length
AssemblyAllele length
hg38570
hg19570
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6489357, essv6199030, essv5775008, essv5810873, essv5827632, essv5507217, essv5404292, essv6512766, essv6173422, essv5589784, essv6309328, essv6179939, essv5746320, essv5986569, essv5499280, essv6585239, essv5906967, essv5915776, essv6474775, essv6468816, essv6369448, essv5531424, essv6205755, essv6179997, essv5523444, essv6193775, essv5906559, essv5402051, essv6210539, essv6371834, essv6375611, essv5639241, essv5781943, essv5915198, essv5460701, essv6522156, essv5520984, essv5567652, essv5885057, essv6497833, essv5769652, essv5859081, essv5859373, essv6403461, essv6064600, essv6453855, essv6176159, essv5811090, essv6401538, essv5594841, essv5898479, essv6072255, essv6387260, essv5693014, essv6089764, essv6410672, essv6176315, essv6013491, essv6558368, essv6017466, essv5463808, essv6235639, essv6569124, essv5955183, essv5925497, essv6492098, essv5880924, essv5927988, essv6191273, essv5623229, essv5694973, essv6395701, essv5697024, essv6466178, essv5829960, essv5913712, essv5774922, essv6361217, essv5790486, essv6351103, essv5940708, essv6551768, essv6474562, essv5643156, essv6579307, essv5718893, essv6062881, essv5734005, essv6252278, essv6562680, essv6500023, essv6293368, essv6359809
SamplesHG00613, NA12718, HG00152, HG00734, NA12750, NA20514, NA18595, HG00619, NA18561, NA19404, HG00705, NA18612, HG00464, NA18501, NA18603, HG00463, HG00657, HG00614, NA18947, NA18542, HG00698, HG00578, NA20322, NA18626, NA18632, NA19077, NA18559, HG00556, NA18627, HG00421, NA19057, NA20811, NA18536, NA19675, NA12155, NA18576, NA18618, NA20504, NA19722, HG01061, NA18990, HG00692, NA18636, NA18959, HG00150, NA18609, HG00419, NA18547, NA11831, NA18637, HG00634, HG00254, NA19679, HG00436, HG00267, HG00620, HG00653, NA20126, NA06985, HG00629, NA19005, NA18558, NA18977, HG00501, NA18487, NA20542, HG00525, NA18562, NA18579, NA18543, NA18940, NA18987, HG00427, HG00443, NA18599, HG00611, NA18989, NA18544, NA18602, HG00654, NA20513, HG00422, NA18610, NA18611, NA18574, HG00442, HG00473, NA19079, HG00476, HG00702, NA19065, NA12775, NA18553
Known GenesCCND2
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674492
Frequency
Sample Size1151
Observed Gain0
Observed Loss93
Observed Complex0
Frequencyn/a


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