A curated catalogue of human genomic structural variation

Variant Details

Variant: esv2674492

Internal ID9593911
Location Information
TypeCoordinatesAssemblyOther Links
chr12:4279595..4280164hg38UCSC Ensembl
chr12:4388761..4389330hg19UCSC Ensembl
Allele length
AssemblyAllele length
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
AnalysisNo reference, merging analysis
CommentsHigh quality site
Pubmed ID23128226
Accession Number(s)esv2674492
Sample Size1151
Observed Gain0
Observed Loss93
Observed Complex0

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