A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5053n100



Internal ID22791140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..52484hg38UCSC Ensembl
chr4:12269..52378hg19UCSC Ensembl
chr4:2269..42378hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3840216
hg1940110
hg1840110
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1004420, nsv1006203, nsv1007601, nsv1007865, nsv1004235, nsv1004164, nsv1001847
Samples
Known Genes
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv5053n100
Frequency
Sample Size11257
Observed Gain107
Observed Loss42
Observed Complex0
Frequencyn/a


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