A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3663n100



Internal ID20155279
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:54289334..54592227hg38UCSC Ensembl
chr19:54793188..55103692hg19UCSC Ensembl
chr19:59485000..59795504hg18UCSC Ensembl
Cytoband19q13.42
Allele length
AssemblyAllele length
hg38302894
hg19310505
hg18310505
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1063983, nsv1059816
Samples
Known GenesCDC42EP5, KIR3DX1, LAIR1, LAIR2, LENG8, LENG9, LILRA2, LILRA3, LILRA4, LILRA5, TTYH1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv3663n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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