A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4814n100



Internal ID20156430
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:93800622..94025077hg38UCSC Ensembl
chr3:93519466..93743921hg19UCSC Ensembl
chr3:95002156..95226611hg18UCSC Ensembl
Cytoband3q11.1
Allele length
AssemblyAllele length
hg38224456
hg19224456
hg18224456
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1005328, nsv998051, nsv1002292
Samples
Known GenesARL13B, PROS1, STX19
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4814n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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