A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8956243



Internal ID12733771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:23867025..23867055hg38UCSC Ensembl
Innerchr12:23867034..23867043hg38UCSC Ensembl
Outerchr12:23867004..23867076hg38UCSC Ensembl
chr12:24019959..24019989hg19UCSC Ensembl
Innerchr12:24019968..24019977hg19UCSC Ensembl
Outerchr12:24019938..24020010hg19UCSC Ensembl
chr12:23911226..23911256hg18UCSC Ensembl
Innerchr12:23911244..23911235hg18UCSC Ensembl
Outerchr12:23911205..23911277hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38185
hg19185
hg18185
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388111
Supporting Variants
SamplesNA07357
Known GenesSOX5
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8956243
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer