A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3315n100



Internal ID20154931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:4249408..4311534hg38UCSC Ensembl
chr18:4249408..4311534hg19UCSC Ensembl
chr18:4239408..4301534hg18UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg3862127
hg1962127
hg1862127
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1064190, nsv1063590
Samples
Known GenesDLGAP1, DLGAP1-AS5
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3315n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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