A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7732662



Internal ID13194925
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:109868158..109868159hg38UCSC Ensembl
Outerchr12:109867973..109868344hg38UCSC Ensembl
Innerchr12:110305963..110305964hg19UCSC Ensembl
Outerchr12:110305778..110306149hg19UCSC Ensembl
Innerchr12:108790347..108790346hg18UCSC Ensembl
Outerchr12:108790161..108790532hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg38372
hg19372
hg18372
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302754
Supporting Variants
SamplesNA11918
Known GenesGLTP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7732662
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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