A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv358n27



Internal ID20132616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3601921..3664167hg38UCSC Ensembl
chr17:3505215..3567461hg19UCSC Ensembl
chr17:3451964..3514210hg18UCSC Ensembl
chr17:3451964..3514210hg17UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3862247
hg1962247
hg1862247
hg1762247
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv457641, nsv457642, nsv457643
Samples1780854495_A, 1780854416_A, 1780862528_A
Known GenesCTNS, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1
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)dgv358n27
Frequency
Sample Size1557
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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