A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv59n27



Internal ID22766788
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:217145253..217151312hg38UCSC Ensembl
chr1:217318595..217324654hg19UCSC Ensembl
chr1:215385218..215391277hg18UCSC Ensembl
chr1:213706990..213713049hg17UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg386060
hg196060
hg186060
hg176060
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468160, nsv468172
SamplesHGDP01013, HGDP01015
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)dgv59n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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