A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309681



Internal ID15156632
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102152690..102152691hg38UCSC Ensembl
Innerchr12:102152536..102152845hg38UCSC Ensembl
Outerchr12:102152535..102152846hg38UCSC Ensembl
chr12:102546468..102546469hg19UCSC Ensembl
Innerchr12:102546314..102546623hg19UCSC Ensembl
Outerchr12:102546313..102546624hg19UCSC Ensembl
chr12:101070598..101070599hg18UCSC Ensembl
Innerchr12:101070753..101070444hg18UCSC Ensembl
Outerchr12:101070443..101070754hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3859
hg1959
hg1859
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7837144
SamplesNA19239
Known GenesPARPBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309681
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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