A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv477n27



Internal ID22767206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:140671182..140730328hg38UCSC Ensembl
chr2:141428751..141487897hg19UCSC Ensembl
chr2:141145221..141204367hg18UCSC Ensembl
chr2:141262483..141321629hg17UCSC Ensembl
Cytoband2q22.1
Allele length
AssemblyAllele length
hg3859147
hg1959147
hg1859147
hg1759147
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv459552, nsv459540
SamplesNINDS_212, 1780862310_A
Known GenesLRP1B
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)dgv477n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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