A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633794



Internal ID7020600
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23977420..24021411hg38UCSC Ensembl
Innerchr14:23977920..24020911hg38UCSC Ensembl
Outerchr14:23976420..24022411hg38UCSC Ensembl
chr14:24446629..24490620hg19UCSC Ensembl
Innerchr14:24447129..24490120hg19UCSC Ensembl
Outerchr14:24445629..24491620hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3843992
hg1943992
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14941877, essv14941879, essv14941871, essv14941896, essv14941838, essv14941863, essv14941878, essv14941843, essv14941873, essv14941861, essv14941885, essv14941865, essv14941869, essv14941857, essv14941842, essv14941853, essv14941883, essv14941848, essv14941852, essv14941888, essv14941893, essv14941867, essv14941868, essv14941849, essv14941844, essv14941851, essv14941895, essv14941890, essv14941860, essv14941858, essv14941884, essv14941840, essv14941866, essv14941859, essv14941894, essv14941856, essv14941882, essv14941835, essv14941899, essv14941876, essv14941847, essv14941875, essv14941862, essv14941837, essv14941836, essv14941854, essv14941880, essv14941870, essv14941892, essv14941874, essv14941897, essv14941898, essv14941841, essv14941845, essv14941846, essv14941864, essv14941850, essv14941872, essv14941855, essv14941887, essv14941839, essv14941891, essv14941881, essv14941889, essv14941886
SamplesHG00189, HG01441, NA19703, HG00102, NA20514, NA11931, NA19393, NA12340, NA20332, HG02688, HG03069, NA20771, NA19446, HG03436, HG03099, HG02690, NA18995, HG03976, HG03873, NA18571, NA19138, NA20513, NA20775, HG00309, HG01198, HG03585, HG02477, NA19007, HG02442, HG02570, HG02236, HG00360, HG03990, HG00368, NA12718, HG01102, HG03829, HG03085, HG03713, HG02601, HG01107, NA19375, NA19308, NA20851, HG03866, HG02684, NA21144, HG02696, HG02064, HG00631, HG01974, NA21095, NA19085, HG01606, HG02971, HG00381, NA21088, HG03066, HG00267, HG00123, HG01781, HG01914, NA18488, HG01886, HG04153
Known GenesDHRS4L1, DHRS4L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633794
Frequency
Sample Size2504
Observed Gain0
Observed Loss65
Observed Complex0
Frequencyn/a


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