A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4249n100



Internal ID22790336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:14349383..14449958hg38UCSC Ensembl
chr20:14330029..14430604hg19UCSC Ensembl
chr20:14278029..14378604hg18UCSC Ensembl
Cytoband20p12.1
Allele length
AssemblyAllele length
hg38100576
hg19100576
hg18100576
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1062079, nsv1061705
Samples
Known GenesMACROD2
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4249n100
Frequency
Sample Size11257
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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