A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688548



Internal ID14698015
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:113317364..113318662hg38UCSC Ensembl
Innerchr12:113317662..113318364hg38UCSC Ensembl
Outerchr12:113316364..113319662hg38UCSC Ensembl
chr12:113755169..113756467hg19UCSC Ensembl
Innerchr12:113755467..113756169hg19UCSC Ensembl
Outerchr12:113754169..113757467hg19UCSC Ensembl
chr12:112239552..112240850hg18UCSC Ensembl
Innerchr12:112240552..112239850hg18UCSC Ensembl
Outerchr12:112238552..112241850hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334504
Supporting Variants
SamplesNA19239
Known GenesSLC8B1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688548
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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