A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv131n100



Internal ID20151747
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:22286197..22479399hg38UCSC Ensembl
chr1:22612690..22805892hg19UCSC Ensembl
chr1:22485277..22678479hg18UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg38193203
hg19193203
hg18193203
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1002972, nsv1014969
Samples
Known GenesZBTB40
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv131n100
Frequency
Sample Size29084
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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