A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv18n27



Internal ID20132276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:70010111..70101298hg38UCSC Ensembl
chr1:70475794..70566981hg19UCSC Ensembl
chr1:70248382..70339569hg18UCSC Ensembl
chr1:70187815..70279002hg17UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3891188
hg1991188
hg1891188
hg1791188
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv461806, nsv461795
Samples1780862003_A, 1780862459_A
Known GenesLRRC7
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)dgv18n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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