A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv898n27



Internal ID22767627
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:136665432..136866822hg38UCSC Ensembl
chr8:137677675..137879065hg19UCSC Ensembl
chr8:137746857..137948247hg18UCSC Ensembl
chr8:137746857..137948247hg17UCSC Ensembl
Cytoband8q24.23
Allele length
AssemblyAllele length
hg38201391
hg19201391
hg18201391
hg17201391
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv465874, nsv465858, nsv465842, nsv465836, nsv465849, nsv465926, nsv465857, nsv465845, nsv465835, nsv465844, nsv465843, nsv465870, nsv465924, nsv465871, nsv465830, nsv465918, nsv465920, nsv465854, nsv465882, nsv465863, nsv465865, nsv465867, nsv465855, nsv465846, nsv465864, nsv465869, nsv465847, nsv465856, nsv465851, nsv465866, nsv465862, nsv465873, nsv465868, nsv465917, nsv465880, nsv465860, nsv465881, nsv465848, nsv465853, nsv465919, nsv465837, nsv465859, nsv465840, nsv465841, nsv465852
SamplesNINDS_13, 1780862274_A, HGDP00003, 1782681096_A, 1798860361_A, HGDP00892, NINDS_82, 1780862452_A, HGDP00279, 1780854095_A, HGDP00259, 1780854129_A, HGDP00559, HGDP00141, HGDP00072, 1782681217_A, NINDS_14, 1780854455_A, HGDP00150, 1780854334_A, HGDP00144, HGDP00076, 1780862227_A, 1798860594_A, 1780862101_A, NINDS_240, HGDP00518, HGDP01075, 1782681317_A, HGDP00670, HGDP00622, HGDP00037, HGDP01386, 1780862002_A, HGDP00584, HGDP00667, HGDP00025, HGDP00594, HGDP00564, HGDP00155, 1780854566_A, 1780862014_A, NINDS_136, HGDP00330, HGDP00338
Known Genes
MethodSNP array
AnalysisAn HMM examining LogR Ratio and B-allele Frequency was used to classify SNP array data into regions of copy-number 0-3. A combination of manual and automated curation was used on the resulting output to reduce false positives.
PlatformNot reported
Comments
ReferenceItsara_et_al_2009
Pubmed ID19166990
Accession Number(s)dgv898n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss45
Observed Complex0
Frequencyn/a


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