A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5345n100



Internal ID20156961
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99181544..99523288hg38UCSC Ensembl
chr4:100102701..100444445hg19UCSC Ensembl
chr4:100321724..100663468hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38341745
hg19341745
hg18341745
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010988, nsv1000659, nsv1014237
Samples
Known GenesADH1A, ADH1B, ADH1C, ADH6, ADH7, C4orf17, LOC100507053
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5345n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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