A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv593n27



Internal ID20132851
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:4751836..4755357hg38UCSC Ensembl
chr3:4793520..4797041hg19UCSC Ensembl
chr3:4768520..4772041hg18UCSC Ensembl
chr3:4768520..4772041hg17UCSC Ensembl
Cytoband3p26.1
Allele length
AssemblyAllele length
hg383522
hg193522
hg183522
hg173522
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv460358, nsv460359
Samples1780862127_A, 1780862229_A
Known GenesITPR1
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)dgv593n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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