A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv125n27



Internal ID20132383
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:133404452..133563944hg38UCSC Ensembl
chr10:135217956..135377448hg19UCSC Ensembl
chr10:135067946..135227438hg18UCSC Ensembl
chr10:135106837..135266329hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38159493
hg19159493
hg18159493
hg17159493
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467520, nsv467522, nsv467523, nsv467521, nsv467519, nsv467518, nsv467514
SamplesHGDP00879, NINDS_89, HGDP00534, HGDP01359, HGDP00881, 1780854418_A, HGDP00388
Known GenesCYP2E1, MTG1, SCART1, SPRN, SYCE1
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)dgv125n27
Frequency
Sample Size1557
Observed Gain7
Observed Loss0
Observed Complex0
Frequencyn/a


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