A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv20n27



Internal ID22766749
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:76482359..76554301hg38UCSC Ensembl
chr1:76948044..77019986hg19UCSC Ensembl
chr1:76720632..76792574hg18UCSC Ensembl
chr1:76660065..76732007hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3871943
hg1971943
hg1871943
hg1771943
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462050, nsv462039, nsv462062, nsv462073
SamplesHGDP00315, HGDP00290, HGDP00286, HGDP00326
Known GenesST6GALNAC3
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)dgv20n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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