A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv22n27



Internal ID11601237
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:88791695..88894837hg38UCSC Ensembl
chr1:89257378..89360520hg19UCSC Ensembl
chr1:89029966..89133108hg18UCSC Ensembl
chr1:88969399..89072541hg17UCSC Ensembl
Cytoband1p22.2
Allele length
AssemblyAllele length
hg38103143
hg19103143
hg18103143
hg17103143
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv462461, nsv462428, nsv462439
SamplesHGDP00995, HGDP01003, HGDP01010
Known GenesGTF2B, PKN2
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)dgv22n27
Frequency
Sample Size1557
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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