A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3628450



Internal ID7015274
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:7916707..7930712hg38UCSC Ensembl
chr12:8069303..8083308hg19UCSC Ensembl
Cytoband12p13.31
Allele length
AssemblyAllele length
hg3814006
hg1914006
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14350008, essv14349974, essv14349982, essv14350031, essv14349970, essv14350000, essv14349976, essv14350035, essv14349985, essv14349968, essv14350028, essv14350002, essv14350003, essv14350019, essv14350027, essv14349992, essv14350051, essv14349988, essv14350043, essv14350044, essv14350010, essv14349990, essv14349994, essv14350025, essv14350048, essv14350013, essv14350020, essv14349969, essv14349989, essv14349999, essv14349986, essv14350026, essv14350006, essv14349972, essv14349973, essv14349978, essv14349983, essv14349996, essv14349993, essv14349966, essv14350034, essv14350021, essv14350011, essv14349967, essv14350009, essv14350014, essv14350022, essv14350042, essv14350004, essv14350032, essv14349984, essv14349980, essv14350045, essv14350047, essv14349965, essv14350050, essv14350037, essv14350033, essv14350046, essv14350015, essv14350023, essv14350030, essv14349997, essv14350038, essv14349998, essv14350016, essv14349971, essv14350039, essv14349979, essv14349987, essv14350040, essv14350024, essv14350007, essv14349991, essv14350036, essv14349995, essv14349963, essv14350017, essv14349975, essv14349964, essv14350041, essv14350049, essv14350001, essv14350012, essv14350029, essv14349981, essv14349977, essv14350005, essv14350018
SamplesNA18998, HG01485, HG00189, HG01850, NA18924, NA18621, HG02385, HG02784, HG00244, NA19092, HG00699, NA18878, HG03772, HG01140, NA18627, HG00641, HG03385, HG02810, HG03757, NA20850, NA20756, HG01710, HG03079, HG01859, HG03910, HG02395, HG01284, HG01405, HG01259, HG03649, NA19921, HG00739, NA20904, NA20892, HG02570, NA12760, NA20800, NA20787, HG02152, HG01344, HG00653, NA18991, HG02731, HG01845, HG01768, HG03900, HG01498, HG03919, HG00708, HG01047, HG01615, HG01102, HG00651, HG00956, NA11840, HG02649, NA19113, NA18553, NA18555, HG03006, HG00410, HG01596, NA20534, HG01811, NA19652, NA20801, HG03809, HG03875, HG02546, NA18950, NA07051, NA18591, HG03565, HG00672, HG03642, HG02367, HG02238, NA19713, NA18873, NA19121, NA18957, NA19011, NA18488, NA20763, NA12890, HG04153, HG03303, HG00978, HG02060
Known GenesSLC2A3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3628450
Frequency
Sample Size2504
Observed Gain89
Observed Loss0
Observed Complex0
Frequencyn/a


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