A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv360n27



Internal ID22767089
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:15124688..15155959hg38UCSC Ensembl
chr17:15028005..15059276hg19UCSC Ensembl
chr17:14968730..15000001hg18UCSC Ensembl
chr17:14968730..15000001hg17UCSC Ensembl
Cytoband17p12
Allele length
AssemblyAllele length
hg3831272
hg1931272
hg1831272
hg1731272
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457680, nsv457682, nsv457683, nsv457681
SamplesHGDP01288, HGDP01399, HGDP00812, HGDP01180
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)dgv360n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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