A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3623150



Internal ID7010007
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:48081876..48182632hg38UCSC Ensembl
chr10:49289919..49390675hg19UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38100757
hg19100757
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv125e214
Supporting Variantsessv13796050, essv13796084, essv13796045, essv13796007, essv13796004, essv13796068, essv13796002, essv13796006, essv13796038, essv13796085, essv13796031, essv13796066, essv13796019, essv13796086, essv13796062, essv13796053, essv13796079, essv13796055, essv13796061, essv13796049, essv13796082, essv13796044, essv13796081, essv13796028, essv13796021, essv13796029, essv13796043, essv13796071, essv13795985, essv13796046, essv13796052, essv13796058, essv13795998, essv13796040, essv13796064, essv13796012, essv13795990, essv13796039, essv13796001, essv13796008, essv13796057, essv13796032, essv13796017, essv13796033, essv13795983, essv13796034, essv13796063, essv13796014, essv13796009, essv13796027, essv13796013, essv13796018, essv13796026, essv13795997, essv13796072, essv13796000, essv13796060, essv13796042, essv13796041, essv13796022, essv13796024, essv13796076, essv13796030, essv13796070, essv13795984, essv13795994, essv13796015, essv13796003, essv13795993, essv13796065, essv13795999, essv13795988, essv13796037, essv13795996, essv13796073, essv13796047, essv13796078, essv13795987, essv13796083, essv13796074, essv13796067, essv13796080, essv13796010, essv13795995, essv13795991, essv13796036, essv13796048, essv13796016, essv13796075, essv13796056, essv13796005, essv13796077, essv13795986, essv13795992, essv13796025, essv13796054, essv13796011, essv13796020, essv13796069, essv13795989, essv13796059, essv13796035, essv13796023, essv13796051
SamplesHG00096, HG04210, NA21110, HG02628, NA20853, NA20508, NA11995, NA20899, HG04158, NA11920, NA20531, HG03717, HG00640, HG04094, HG00103, NA19819, HG01971, HG02536, NA12400, HG01704, NA19920, HG01140, HG00337, HG00271, NA20814, NA19446, NA19089, NA18519, HG03016, NA19315, HG01702, NA20774, NA20756, NA12287, HG00334, HG00139, NA20759, HG00277, HG01628, HG03595, NA19372, NA18617, HG01284, HG03777, HG02471, NA12815, HG03352, HG01259, HG02427, HG01771, HG01133, NA19445, NA20587, NA12748, HG01603, NA20854, NA12342, HG04039, HG03644, HG01789, HG02449, HG00101, HG00132, HG03756, NA19776, NA21116, HG03824, NA21086, HG03951, HG04173, NA20881, HG01593, HG03634, HG00146, HG00246, HG04200, HG03934, HG00265, NA19834, HG04026, HG03367, NA12775, HG03838, HG02651, HG03702, HG03012, HG02941, NA19783, HG03108, HG00339, NA20887, HG03600, HG02700, NA20849, NA20786, HG00234, HG00252, NA07056, HG01775, HG02778, HG01437, NA12776, HG02060, HG01618
Known GenesFRMPD2, FRMPD2P1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3623150
Frequency
Sample Size2504
Observed Gain104
Observed Loss0
Observed Complex0
Frequencyn/a


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