A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4858n100



Internal ID22790945
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:129501131..129622888hg38UCSC Ensembl
chr3:129219974..129341731hg19UCSC Ensembl
chr3:130702664..130824421hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38121758
hg19121758
hg18121758
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1000073, nsv1010192, nsv1001543
Samples
Known GenesH1FOO, IFT122, PLXND1, RHO
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4858n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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