A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv67n27



Internal ID20132325
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12058736..12123248hg38UCSC Ensembl
chr10:12100735..12165247hg19UCSC Ensembl
chr10:12140741..12205253hg18UCSC Ensembl
chr10:12140741..12205253hg17UCSC Ensembl
Cytoband10p14
Allele length
AssemblyAllele length
hg3864513
hg1964513
hg1864513
hg1764513
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv466738, nsv466737
SamplesHGDP00908, HGDP00905
Known GenesDHTKD1
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)dgv67n27
Frequency
Sample Size1557
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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