A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4747n100



Internal ID20156363
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53812714..53900754hg38UCSC Ensembl
chr3:53846741..53934781hg19UCSC Ensembl
chr3:53821781..53909821hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg3888041
hg1988041
hg1888041
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv997771, nsv1002141, nsv1010575
Samples
Known GenesACTR8, CHDH, IL17RB, SELK
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4747n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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