A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161336



Internal ID7906050
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr9:114030664..114592582hg38UCSC Ensembl
Innerchr9:116792944..117354862hg19UCSC Ensembl
Innerchr9:115832765..116394683hg18UCSC Ensembl
Innerchr9:113872498..114434416hg17UCSC Ensembl
Cytoband9q32
Allele length
AssemblyAllele length
hg38561919
hg19561919
hg18561919
hg17561919
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422396
Supporting Variants
SamplesND00528
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)essv5161336
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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