A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1936n100



Internal ID20153552
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr14:73950133..74073431hg38UCSC Ensembl
chr14:74416836..74540134hg19UCSC Ensembl
chr14:73486589..73609887hg18UCSC Ensembl
Cytoband14q24.3
Allele length
AssemblyAllele length
hg38123299
hg19123299
hg18123299
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1045075, nsv1038345, nsv1041796
Samples
Known GenesALDH6A1, CCDC176, COQ6, ENTPD5, FAM161B
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv1936n100
Frequency
Sample Size29084
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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