A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv164n27



Internal ID20132422
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:85977166..86046547hg38UCSC Ensembl
chr11:85688209..85757589hg19UCSC Ensembl
chr11:85365857..85435237hg18UCSC Ensembl
chr11:85365857..85435237hg17UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg3869382
hg1969381
hg1869381
hg1769381
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv468771, nsv468770
SamplesNINDS_147, HGDP00517
Known GenesPICALM
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)dgv164n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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