A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3644598



Internal ID6684664
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48700284..48704580hg38UCSC Ensembl
Innerchr19:48700284..48704580hg38UCSC Ensembl
Outerchr19:48700127..48704746hg38UCSC Ensembl
chr19:49203541..49207837hg19UCSC Ensembl
Innerchr19:49203541..49207837hg19UCSC Ensembl
Outerchr19:49203384..49208003hg19UCSC Ensembl
Cytoband19q13.33
Allele length
AssemblyAllele length
hg384297
hg194297
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv16072991, essv16073003, essv16072998, essv16073029, essv16073005, essv16073023, essv16072997, essv16072986, essv16073025, essv16073008, essv16073036, essv16072988, essv16072994, essv16072995, essv16073009, essv16073014, essv16073035, essv16073040, essv16073007, essv16073051, essv16073024, essv16073043, essv16073028, essv16072992, essv16073026, essv16073047, essv16073021, essv16072993, essv16073022, essv16073020, essv16073030, essv16073031, essv16073050, essv16073048, essv16073042, essv16073000, essv16072989, essv16073016, essv16073046, essv16073015, essv16072990, essv16073027, essv16073006, essv16073044, essv16073018, essv16073004, essv16072999, essv16072996, essv16073013, essv16073032, essv16073012, essv16073041, essv16073017, essv16073033, essv16072987, essv16073037, essv16073038, essv16073049, essv16073034, essv16073001, essv16073039, essv16073045, essv16073019, essv16073010, essv16073011, essv16073002
SamplesHG03857, HG03965, HG04229, HG03687, HG03607, HG03015, HG02727, HG03895, HG03667, HG03944, HG03950, HG03782, HG03837, HG04100, HG04038, HG03706, HG03943, HG03754, HG03722, HG03873, HG03604, HG03594, HG03887, HG04183, HG03888, HG03947, HG03744, HG03750, HG04075, HG03862, HG01867, HG03787, HG03007, HG03900, HG03919, HG02789, HG04054, HG03951, HG03858, HG03740, HG03643, HG04189, NA19059, HG03745, HG01936, HG03898, HG03743, HG02330, HG03848, HG04227, HG03692, NA21123, HG03488, HG03681, HG04141, HG04015, HG03849, HG03998, HG03684, HG04098, NA19661, HG04161, HG04061, HG03698, HG03686, HG03741
Known GenesFUT2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3644598
Frequency
Sample Size2504
Observed Gain0
Observed Loss66
Observed Complex0
Frequencyn/a


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