A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3630636



Internal ID6670771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104336903..104338655hg38UCSC Ensembl
Innerchr12:104336909..104338649hg38UCSC Ensembl
Outerchr12:104336897..104338661hg38UCSC Ensembl
chr12:104730681..104732433hg19UCSC Ensembl
Innerchr12:104730687..104732427hg19UCSC Ensembl
Outerchr12:104730675..104732439hg19UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg381753
hg191753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14596874, essv14596875, essv14596863, essv14596860, essv14596871, essv14596858, essv14596852, essv14596876, essv14596861, essv14596857, essv14596844, essv14596851, essv14596856, essv14596855, essv14596868, essv14596866, essv14596870, essv14596865, essv14596859, essv14596864, essv14596853, essv14596849, essv14596848, essv14596854, essv14596847, essv14596862, essv14596873, essv14596850, essv14596867, essv14596869, essv14596846, essv14596845, essv14596872
SamplesHG00252, HG01284, NA19819, NA12815, HG00189, HG01350, HG00139, HG01500, NA12776, NA07051, HG03960, NA20798, HG00554, HG01521, NA12414, NA20505, NA11919, HG00121, HG02143, HG01628, NA12830, HG00176, NA20822, HG04062, HG01699, NA20774, HG01767, HG00151, NA12413, HG01464, HG00137, HG01678, HG02253
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3630636
Frequency
Sample Size2504
Observed Gain0
Observed Loss33
Observed Complex0
Frequencyn/a


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