A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3610n100



Internal ID19013978
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48024325..48062810hg38UCSC Ensembl
chr19:48527582..48566067hg19UCSC Ensembl
chr19:53219394..53257879hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3838486
hg1938486
hg1838486
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063209, nsv1059123
Samples
Known GenesCABP5, ELSPBP1, PLA2G4C
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3610n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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