A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv121n27



Internal ID20132379
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:132345217..132477022hg38UCSC Ensembl
chr10:134158721..134290526hg19UCSC Ensembl
chr10:134008711..134140516hg18UCSC Ensembl
chr10:134008711..134140516hg17UCSC Ensembl
Cytoband10q26.3
Allele length
AssemblyAllele length
hg38131806
hg19131806
hg18131806
hg17131806
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv467492, nsv467491
SamplesNINDS_60, NINDS_50
Known GenesC10orf91, LRRC27, PWWP2B
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)dgv121n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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