A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv231n27



Internal ID22766960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:69188811..69200965hg38UCSC Ensembl
chr13:69762943..69775097hg19UCSC Ensembl
chr13:68660944..68673098hg18UCSC Ensembl
chr13:68660944..68673098hg17UCSC Ensembl
Cytoband13q21.33
Allele length
AssemblyAllele length
hg3812155
hg1912155
hg1812155
hg1712155
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv455964, nsv455965
SamplesNINDS_142, NINDS_114
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)dgv231n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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