A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2761195



Internal ID10028557
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:67631798..67655950hg38UCSC Ensembl
Innerchr8:68544033..68568185hg19UCSC Ensembl
Innerchr8:68706587..68730739hg18UCSC Ensembl
Cytoband8q13.2
Allele length
AssemblyAllele length
hg3824153
hg1924153
hg1824153
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7016904, essv7016912, essv7016919, essv7016918, essv7016914, essv7016891, essv7016909, essv7016877, essv7016936, essv7016883, essv7016897, essv7016902, essv7016886, essv7016930, essv7016899, essv7016916, essv7016926, essv7016915, essv7016917, essv7016890, essv7016901, essv7016888, essv7016924, essv7016939, essv7016910, essv7016893, essv7016932, essv7016929, essv7016896, essv7016935, essv7016927, essv7016887, essv7016931, essv7016925, essv7016923, essv7016905, essv7016885, essv7016895, essv7016934, essv7016913, essv7016921, essv7016879, essv7016898, essv7016884, essv7016940, essv7016920, essv7016907, essv7016881, essv7016876, essv7016906, essv7016903, essv7016880, essv7016892, essv7016908, essv7016928, essv7016894, essv7016937, essv7016882, essv7016938
SamplesRW_0169, RW_0059, RW_0300, RW_0203, RW_0087, RW_0636, RW_0526, RW_0030, RW_0069, RW_0101, RW_0239, RW_0058, RW_0007, RW_0134, RW_0116, RW_0309, RW_0254, RW_0334, RW_0115, RW_0003, RW_0548, RW_0112, RW_0121, RW_0233, RW_0272, RW_0539, RW_0575, RW_0643, RW_0505, RW_0648, RW_0279, RW_0085, RW_0001, RW_0653, RW_0129, RW_0328, RW_0231, RW_0609, RW_0194, RW_0126, RW_0335, RW_0117, RW_0621, RW_0045, RW_0599, RW_0149, RW_0154, RW_0079, RW_0306, RW_0612, RW_0209, RW_0234, RW_0072, RW_0167, RW_0248, RW_0139, RW_0594, RW_0213, RW_0162
Known GenesCPA6
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)esv2761195
Frequency
Sample Size1109
Observed Gain0
Observed Loss59
Observed Complex0
Frequencyn/a


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