A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv7229n100



Internal ID20158845
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:56133742..56197638hg38UCSC Ensembl
chr8:57046301..57110197hg19UCSC Ensembl
chr8:57208855..57272751hg18UCSC Ensembl
Cytoband8q12.1
Allele length
AssemblyAllele length
hg3863897
hg1963897
hg1863897
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1027698, nsv1029131, nsv1032505, nsv1022233, nsv1030771
Samples
Known GenesPLAG1
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv7229n100
Frequency
Sample Size29084
Observed Gain27
Observed Loss0
Observed Complex0
Frequencyn/a


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