A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760238



Internal ID10376546
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:33140973..33162724hg38UCSC Ensembl
Innerchr12:33293907..33315658hg19UCSC Ensembl
Innerchr12:33185174..33206925hg18UCSC Ensembl
Cytoband12p11.1
Allele length
AssemblyAllele length
hg3821752
hg1921752
hg1821752
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7020871, essv7020840, essv7020829, essv7020843, essv7020846, essv7020858, essv7020848, essv7020851, essv7020866, essv7020859, essv7020845, essv7020830, essv7020828, essv7020837, essv7020835, essv7020839, essv7020836, essv7020869, essv7020850, essv7020826, essv7020832, essv7020864, essv7020838, essv7020852, essv7020824, essv7020827, essv7020854, essv7020870, essv7020841, essv7020865, essv7020825, essv7020868, essv7020842, essv7020863, essv7020834, essv7020857, essv7020849, essv7020861, essv7020860, essv7020853, essv7020847, essv7020862, essv7020831
SamplesRW_0620, RW_0274, RW_0660, RW_0292, RW_0007, RW_0268, RW_0560, RW_0134, RW_0330, RW_0192, RW_0504, RW_0062, RW_0503, RW_0603, RW_0512, RW_0616, RW_0269, RW_0111, RW_0631, RW_0602, RW_0143, RW_0197, RW_0094, RW_0618, RW_0567, RW_0593, RW_0666, RW_0302, RW_0281, RW_0534, RW_0289, RW_0036, RW_0320, RW_0021, RW_0562, RW_0164, RW_0045, RW_0183, RW_0154, RW_0124, RW_0646, RW_0554, RW_0594
Known Genes
MethodMerging
AnalysisTwo different algorithms (PennCNV and Birdseye) were applied to detect CNVs. Only congruent CNV events regarding direction of effect that were detected by both algorithms were merged using the outer borders of the event in a first step. In a second step only CNVs that were detected in at least two individuals were merged into a CNVR.
PlatformMerging
Comments
ReferenceVogler_et_al_2010
Pubmed ID21179565
Accession Number(s)esv2760238
Frequency
Sample Size1109
Observed Gain0
Observed Loss43
Observed Complex0
Frequencyn/a


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