A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2760865



Internal ID10028227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr4:143794196..144100159hg38UCSC Ensembl
Innerchr4:144715349..145021312hg19UCSC Ensembl
Innerchr4:144934799..145240762hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg38305964
hg19305964
hg18305964
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv127e203
Supporting Variantsessv7011888, essv7011836, essv7011866, essv7011901, essv7011837, essv7011851, essv7011850, essv7011880, essv7011885, essv7011884, essv7011871, essv7011879, essv7011876, essv7011898, essv7011852, essv7011858, essv7011897, essv7011882, essv7011844, essv7011860, essv7011842, essv7011853, essv7011838, essv7011881, essv7011896, essv7011863, essv7011865, essv7011873, essv7011841, essv7011845, essv7011894, essv7011895, essv7011902, essv7011847, essv7011883, essv7011848, essv7011874, essv7011849, essv7011862, essv7011839, essv7011840, essv7011861, essv7011877, essv7011890, essv7011868, essv7011872, essv7011893, essv7011870, essv7011886, essv7011891, essv7011846, essv7011875, essv7011887, essv7011899, essv7011859, essv7011892, essv7011864, essv7011869, essv7011857
SamplesRW_0208, RW_0585, RW_0300, RW_0237, RW_0583, RW_0636, RW_0348, RW_0526, RW_0030, RW_0553, RW_0610, RW_0359, RW_0268, RW_0258, RW_0606, RW_0270, RW_0322, RW_0555, RW_0011, RW_0614, RW_0551, RW_0334, RW_0115, RW_0269, RW_0324, RW_0602, RW_0143, RW_0065, RW_0505, RW_0648, RW_0608, RW_0618, RW_0666, RW_0085, RW_0001, RW_0222, RW_0193, RW_0231, RW_0521, RW_0564, RW_0021, RW_0335, RW_0589, RW_0132, RW_0273, RW_0220, RW_0584, RW_0079, RW_0038, RW_0612, RW_0191, RW_0072, RW_0554, RW_0508, RW_0590, RW_0162
Known GenesGYPB, GYPE
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)esv2760865
Frequency
Sample Size1109
Observed Gain12
Observed Loss45
Observed Complex0
Frequencyn/a


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