A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5161459



Internal ID8252634
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr22:32090461..32392271hg38UCSC Ensembl
Innerchr22:32486448..32788258hg19UCSC Ensembl
Innerchr22:30816448..31118258hg18UCSC Ensembl
Innerchr22:30811002..31112812hg17UCSC Ensembl
Cytoband22q12.3
Allele length
AssemblyAllele length
hg38301811
hg19301811
hg18301811
hg17301811
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2422247
Supporting Variants
SamplesND00665
Known GenesAP1B1P1, C22orf42, LOC339666, RFPL2, RFPL3, RFPL3S, RTCB, SLC5A1, SLC5A4
MethodSNP array
Analysislog R ratio and B allele frequency.
PlatformNot specified
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)essv5161459
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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