A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161243



Internal ID7905957
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114049014..114604363hg38UCSC Ensembl
Innerchr9:116811294..117366643hg19UCSC Ensembl
Innerchr9:115851115..116406464hg18UCSC Ensembl
Innerchr9:113890848..114446197hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38555350
hg19555350
hg18555350
hg17555350
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422492
Supporting Variants
SamplesND05067
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)essv5161243
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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