A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv623n27



Internal ID22767352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:162376642..162424687hg38UCSC Ensembl
chr3:162094430..162142475hg19UCSC Ensembl
chr3:163577124..163625169hg18UCSC Ensembl
chr3:163577132..163625177hg17UCSC Ensembl
Cytoband3q26.1
Allele length
AssemblyAllele length
hg3848046
hg1948046
hg1848046
hg1748046
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460924, nsv460925
SamplesNINDS_183, 1782681080_A
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)dgv623n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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