A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3085n100



Internal ID20154701
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr17:3595117..3665113hg38UCSC Ensembl
chr17:3498411..3568407hg19UCSC Ensembl
chr17:3445160..3515156hg18UCSC Ensembl
Cytoband17p13.2
Allele length
AssemblyAllele length
hg3869997
hg1969997
hg1869997
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1057443, nsv1061465, nsv1059749, nsv1061017
Samples
Known GenesCTNS, P2RX5-TAX1BP3, SHPK, TAX1BP3, TRPV1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3085n100
Frequency
Sample Size29084
Observed Gain0
Observed Loss36
Observed Complex0
Frequencyn/a


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