A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644417



Internal ID7031172
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:42847842..42889626hg38UCSC Ensembl
Innerchr19:42848342..42889126hg38UCSC Ensembl
Outerchr19:42846842..42890626hg38UCSC Ensembl
chr19:43351994..43393778hg19UCSC Ensembl
Innerchr19:43352494..43393278hg19UCSC Ensembl
Outerchr19:43350994..43394778hg19UCSC Ensembl
Cytoband19q13.2
Allele length
AssemblyAllele length
hg3841785
hg1941785
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16057100, essv16057039, essv16057098, essv16057063, essv16057068, essv16056991, essv16057053, essv16057023, essv16057057, essv16057003, essv16057019, essv16057026, essv16057093, essv16057080, essv16057050, essv16057013, essv16057016, essv16057075, essv16057067, essv16057054, essv16057073, essv16057071, essv16056996, essv16057028, essv16056999, essv16057000, essv16056990, essv16057076, essv16056988, essv16057037, essv16057005, essv16057011, essv16057074, essv16057058, essv16057049, essv16057010, essv16057024, essv16057062, essv16057032, essv16057079, essv16057078, essv16057052, essv16057031, essv16057056, essv16056983, essv16057051, essv16057008, essv16057002, essv16057045, essv16057018, essv16057046, essv16057017, essv16057038, essv16057065, essv16057086, essv16057077, essv16057025, essv16057081, essv16056998, essv16057095, essv16057090, essv16057064, essv16057014, essv16057083, essv16056997, essv16057029, essv16057042, essv16057048, essv16057035, essv16057060, essv16057082, essv16056993, essv16056994, essv16056992, essv16057061, essv16057089, essv16056987, essv16056989, essv16057020, essv16057097, essv16056984, essv16057007, essv16057087, essv16057092, essv16057012, essv16057006, essv16057088, essv16056985, essv16057094, essv16057099, essv16057070, essv16057004, essv16057055, essv16057085, essv16057072, essv16057033, essv16057030, essv16057034, essv16057009, essv16057084, essv16057040, essv16057096, essv16057059, essv16056986, essv16057066, essv16057001, essv16056995, essv16057091, essv16057043, essv16057022, essv16057036, essv16057069, essv16057044, essv16057041, essv16057027, essv16057047, essv16057021, essv16057015
SamplesHG04212, HG00114, HG01746, HG02652, NA19397, NA20877, NA18947, NA12286, HG03965, HG01443, HG00559, NA20899, HG02231, NA20532, HG04002, HG03792, HG02040, NA20517, NA19669, NA20846, HG03782, HG01350, HG02185, NA20589, HG03808, HG01277, HG00599, NA18982, HG03765, HG02521, HG03673, NA12348, HG01843, HG01492, HG03246, HG01528, NA20759, HG01080, HG00632, HG00335, NA18874, HG02067, NA20775, NA18868, HG02187, NA19901, HG02780, HG04029, HG04075, HG02164, HG00675, NA18648, NA12748, HG02479, HG03709, NA20854, HG03908, HG03685, HG01171, HG02152, HG01344, NA18956, HG03547, HG02554, HG02450, HG03428, HG00584, HG00533, HG01845, HG03775, HG03081, HG02221, HG01777, HG03301, HG02429, NA20903, HG00956, HG02649, HG00146, NA20828, HG00463, HG01936, NA18531, HG01625, HG01148, HG00258, NA21113, NA18533, HG02696, NA18950, NA19732, NA20804, NA18992, NA19679, HG03870, HG01620, HG03973, HG03779, NA20887, HG00107, NA19376, HG01861, HG01086, HG01770, HG02238, NA12749, HG04014, HG02679, HG03077, HG01468, HG01914, HG02028, HG03611, HG03856, NA20908, HG01437, HG03886, HG03741
Known GenesPSG1, PSG10P
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644417
Frequency
Sample Size2504
Observed Gain0
Observed Loss118
Observed Complex0
Frequencyn/a


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