A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv3611n100



Internal ID20155227
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr19:48024325..48081406hg38UCSC Ensembl
chr19:48527582..48584663hg19UCSC Ensembl
chr19:53219394..53276475hg18UCSC Ensembl
Cytoband19q13.32
Allele length
AssemblyAllele length
hg3857082
hg1957082
hg1857082
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1058668, nsv1056392, nsv1064918, nsv1062824
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)dgv3611n100
Frequency
Sample Size29084
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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