A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3436335



Internal ID14936602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24220383..24220406hg38UCSC Ensembl
Innerchr12:24220392..24220397hg38UCSC Ensembl
Outerchr12:24220369..24220420hg38UCSC Ensembl
chr12:24373317..24373340hg19UCSC Ensembl
Innerchr12:24373326..24373331hg19UCSC Ensembl
Outerchr12:24373303..24373354hg19UCSC Ensembl
chr12:24264584..24264607hg18UCSC Ensembl
Innerchr12:24264598..24264593hg18UCSC Ensembl
Outerchr12:24264570..24264621hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38252
hg19252
hg18252
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8956246, essv8956247, essv8956244, essv8956245, essv8956249
SamplesNA18520, NA18511, NA18947, NA18510, NA18853
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3436335
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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