A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674992



Internal ID4719326
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238425928..238426371hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19n/a
Variant TypeCNV Deletion
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusM
Merged Variants
Supporting Variantsessv5828441, essv5767541, essv5728400, essv5781606, essv6342532, essv5920299, essv5442669, essv5969774, essv6010280, essv5729543, essv6574179, essv5425149, essv6397142, essv5418691, essv6152330, essv6356870, essv6426926, essv5442566, essv5649444, essv6177613, essv5553112, essv6353041, essv5900093, essv6497880, essv5715456, essv6208026, essv5616787, essv6056269, essv5678521, essv6470184, essv6151347, essv5611420, essv5399055, essv5904337, essv5774747, essv5787805, essv5734678, essv6031036, essv5998971, essv6340210, essv6188526, essv5527947, essv5548340, essv6060857, essv5890685, essv5949865, essv5569836, essv5560090, essv5570813, essv5605921, essv6193026, essv6256599, essv6015361, essv5847045, essv5689695, essv6233674, essv5419398, essv5741677, essv5396808, essv5575804, essv5693504, essv6246026, essv6410035, essv6279157, essv5720499, essv6574950, essv6538835, essv6361109, essv5559247, essv5810828, essv5823731, essv5631762, essv6215431, essv5406169, essv6046408, essv5890059, essv5929377, essv5591324
SamplesNA12827, NA18964, HG00537, NA07347, NA20787, NA20771, NA12286, NA19819, NA07056, NA18874, HG00500, NA20796, NA12340, NA20775, NA19670, NA19788, NA20800, NA20816, NA18947, HG00557, NA19701, NA18950, NA20761, NA20505, NA19085, NA20533, NA19652, NA19675, NA18576, NA18960, NA19471, NA20757, NA20807, NA18856, NA19908, HG00149, HG00338, NA18959, NA11843, NA12829, NA19679, HG01187, NA20773, NA20769, NA19080, NA12046, NA19189, NA18572, HG00268, NA19002, HG01069, NA18487, NA20774, NA19909, NA18562, NA19074, HG01060, HG00120, NA18619, NA20581, NA18983, NA18599, NA20799, NA18538, NA18565, NA18544, HG00608, NA18577, NA19717, NA12842, NA18499, HG00422, NA20543, NA18984, NA19315, NA18574, NA20806, NA19468
Known GenesMLPH
Method
Analysis
Platform
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674992
Frequency
Sample Size1151
Observed Gain0
Observed Loss78
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer