A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv4575n100



Internal ID22790662
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr22:41160903..41173605hg38UCSC Ensembl
chr22:41556907..41569609hg19UCSC Ensembl
chr22:39886853..39899555hg18UCSC Ensembl
Cytoband22q13.2
Allele length
AssemblyAllele length
hg3812703
hg1912703
hg1812703
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsnsv1056886, nsv1057738, nsv1065271
Samples
Known GenesEP300
MethodSNP array
AnalysisAffymetrix SNP array copy number analysis
PlatformAffymetrix SNP Array 6.0
Comments
ReferenceCoe_et_al_2014
Pubmed ID25217958
Accession Number(s)dgv4575n100
Frequency
Sample Size11257
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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