A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3633792



Internal ID7020598
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:23968715..24005678hg38UCSC Ensembl
Innerchr14:23969215..24005178hg38UCSC Ensembl
Outerchr14:23967715..24006678hg38UCSC Ensembl
chr14:24437924..24474887hg19UCSC Ensembl
Innerchr14:24438424..24474387hg19UCSC Ensembl
Outerchr14:24436924..24475887hg19UCSC Ensembl
Cytoband14q11.2
Allele length
AssemblyAllele length
hg3836964
hg1936964
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14941738, essv14941764, essv14941736, essv14941726, essv14941761, essv14941743, essv14941732, essv14941722, essv14941763, essv14941723, essv14941737, essv14941739, essv14941759, essv14941721, essv14941734, essv14941760, essv14941767, essv14941707, essv14941718, essv14941714, essv14941758, essv14941749, essv14941728, essv14941762, essv14941717, essv14941702, essv14941740, essv14941708, essv14941744, essv14941705, essv14941753, essv14941752, essv14941711, essv14941704, essv14941751, essv14941765, essv14941730, essv14941742, essv14941724, essv14941715, essv14941706, essv14941747, essv14941770, essv14941754, essv14941745, essv14941750, essv14941729, essv14941725, essv14941720, essv14941731, essv14941703, essv14941748, essv14941769, essv14941766, essv14941719, essv14941709, essv14941713, essv14941756, essv14941746, essv14941741, essv14941700, essv14941735, essv14941768, essv14941733, essv14941710, essv14941716, essv14941701, essv14941727, essv14941757, essv14941712, essv14941755
SamplesHG00189, HG01441, HG00102, NA20514, NA11933, NA11931, NA12340, NA20332, HG02688, NA20771, NA19446, HG03436, HG03099, HG02690, NA18995, HG03976, HG03873, NA18571, NA19138, NA20513, HG00311, NA12275, NA20775, HG00309, HG01198, HG03585, HG02477, NA21105, HG00365, NA19007, HG02442, HG00188, HG02570, HG02236, HG00360, NA19462, NA12878, HG03990, HG00368, NA12718, HG01102, HG03829, HG03085, HG03713, HG02601, HG00276, HG01107, NA19375, NA19308, NA20851, HG03866, HG02684, NA21144, HG02696, HG00631, HG01974, NA21095, NA19085, HG01606, HG01765, HG00381, NA21088, HG03066, HG00267, HG00123, HG02113, HG01781, HG01914, NA18488, HG01886, NA21120
Known GenesDHRS4, DHRS4L2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3633792
Frequency
Sample Size2504
Observed Gain0
Observed Loss71
Observed Complex0
Frequencyn/a


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