A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2422213



Internal ID3031932
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:53645563..53724439hg19UCSC Ensembl
Innerchr1:53418151..53497027hg18UCSC Ensembl
Innerchr1:53357584..53436460hg17UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg19n/a
hg18n/a
hg17n/a
Variant TypeCNV Duplication
Copy Number
Allele State
Allele Origin
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv5161539
SamplesND01562
Known GenesC1orf123, CPT2, LOC100507564, LRP8, MAGOH
Method
AnalysisRegion identical to calls - DGVa curated
PlatformIllumina HumanHap300 BeadChip + Infinium Human-1 Genotyping BeadChip
Comments
ReferenceSimon-Sanchez_et_al_2007
Pubmed ID17116639
Accession Number(s)esv2422213
Frequency
Sample Size181
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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