A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3584997



Internal ID6972522
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:1458481..1492003hg38UCSC Ensembl
chr1:1393861..1427383hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg3833523
hg1933523
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1e214
Supporting Variantsessv9840727, essv9840732, essv9840736, essv9840724, essv9840729, essv9840730, essv9840728, essv9840756, essv9840737, essv9840733, essv9840757, essv9840758, essv9840726, essv9840759, essv9840749, essv9840751, essv9840763, essv9840752, essv9840762, essv9840734, essv9840742, essv9840738, essv9840731, essv9840725, essv9840739, essv9840760, essv9840745, essv9840741, essv9840754, essv9840748, essv9840740, essv9840744, essv9840750, essv9840761, essv9840765, essv9840753, essv9840747, essv9840755, essv9840746, essv9840764, essv9840735, essv9840743
SamplesHG00536, NA19794, HG02648, NA11920, HG01280, NA18486, HG03298, HG01694, HG03464, NA19171, HG00109, HG04182, NA11918, HG03234, NA21108, NA20910, HG04214, HG00232, HG03693, NA19189, HG03844, HG00268, NA20314, NA18516, HG01607, HG01842, HG02725, NA12778, NA12546, NA19308, NA20870, NA12046, HG02232, HG03433, NA19438, HG03097, HG01556, HG01085, HG01631, HG02465, HG01509, HG03265
Known GenesATAD3B, ATAD3C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3584997
Frequency
Sample Size2504
Observed Gain0
Observed Loss42
Observed Complex0
Frequencyn/a


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