A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409691



Internal ID14909965
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24298786..24298794hg38UCSC Ensembl
Innerchr12:24298780..24298798hg38UCSC Ensembl
Outerchr12:24298774..24298806hg38UCSC Ensembl
chr12:24451720..24451728hg19UCSC Ensembl
Innerchr12:24451714..24451732hg19UCSC Ensembl
Outerchr12:24451708..24451740hg19UCSC Ensembl
chr12:24342987..24342995hg18UCSC Ensembl
Innerchr12:24342999..24342981hg18UCSC Ensembl
Outerchr12:24342975..24343007hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672301, essv8672303, essv8672302
SamplesNA12892, NA12891, NA12878
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409691
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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