A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv747n27



Internal ID22767476
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:31387042..31491965hg38UCSC Ensembl
chr6:31354819..31459742hg19UCSC Ensembl
chr6:31462798..31567721hg18UCSC Ensembl
chr6:31462798..31567721hg17UCSC Ensembl
Cytoband6p21.33
Allele length
AssemblyAllele length
hg38104924
hg19104924
hg18104924
hg17104924
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462852, nsv462846, nsv462821, nsv462820, nsv462831, nsv462860, nsv462832, nsv462824, nsv462822, nsv462842, nsv462823, nsv462866, nsv462861, nsv462825, nsv462850, nsv462835, nsv462859, nsv462864, nsv462853, nsv462829, nsv462845, nsv462849, nsv462863, nsv462858, nsv462833, nsv462826, nsv462819, nsv462847, nsv462828, nsv462830, nsv462834, nsv462848, nsv462836, nsv462865
SamplesHGDP01208, HGDP01212, HGDP00445, NINDS_191, HGDP00739, HGDP01250, HGDP00120, HGDP01237, HGDP00699, HGDP00675, HGDP00945, HGDP01203, HGDP01290, HGDP01223, HGDP00753, HGDP01096, HGDP00762, 1780862101_A, HGDP00689, HGDP00852, HGDP00771, HGDP00975, HGDP00733, HGDP00868, HGDP00656, HGDP00920, HGDP00110, HGDP01240, HGDP00927, 1780862094_A, HGDP00832, HGDP00876, HGDP01023, HGDP01251
Known GenesHCG26, HCP5, MICA
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)dgv747n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss34
Observed Complex0
Frequencyn/a


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