A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3319n100



Internal ID22789406
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:7730118..7768538hg38UCSC Ensembl
chr18:7730116..7768536hg19UCSC Ensembl
chr18:7720116..7758536hg18UCSC Ensembl
Cytoband18p11.23
Allele length
AssemblyAllele length
hg3838421
hg1938421
hg1838421
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064869, nsv1067394, nsv1057760, nsv1061538
Samples
Known GenesPTPRM
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3319n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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