A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv33e196



Internal ID20123232
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:114030664..114604363hg38UCSC Ensembl
chr9:116792944..117366643hg19UCSC Ensembl
chr9:115832765..116406464hg18UCSC Ensembl
chr9:113872498..114446197hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38573700
hg19573700
hg18573700
hg17573700
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2422396, esv2422492
SamplesND00528, ND05067
Known GenesAKNA, AMBP, ATP6V1G1, COL27A1, DFNB31, KIF12, MIR455, ORM1, ORM2, ZNF618
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)dgv33e196
Frequency
Sample Size181
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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