A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv5050n100



Internal ID22791137
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:12269..36755hg38UCSC Ensembl
chr4:12269..36756hg19UCSC Ensembl
chr4:2269..26756hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg3824487
hg1924488
hg1824488
Variant TypeCNV gain+loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1010960, nsv1007556, nsv1013715
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)dgv5050n100
Frequency
Sample Size11257
Observed Gain56
Observed Loss30
Observed Complex0
Frequencyn/a


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