A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv45n27



Internal ID22766774
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:188766205..188913906hg38UCSC Ensembl
chr1:188735336..188883037hg19UCSC Ensembl
chr1:187001959..187149660hg18UCSC Ensembl
chr1:185466993..185614694hg17UCSC Ensembl
Cytoband1q31.1
Allele length
AssemblyAllele length
hg38147702
hg19147702
hg18147702
hg17147702
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466428, nsv466450, nsv466417, nsv466439
SamplesHGDP00092, HGDP01199, 1782681169_A, HGDP00948
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)dgv45n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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