A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3412n100



Internal ID20155028
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:79915963..80054070hg38UCSC Ensembl
chr18:77675963..77814070hg19UCSC Ensembl
chr18:75776951..75915058hg18UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38138108
hg19138108
hg18138108
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1060634, nsv1058547
Samples
Known GenesHSBP1L1, PQLC1, RBFA, TXNL4A
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3412n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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