A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3382474



Internal ID15229445
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:102152750..102152834hg38UCSC Ensembl
Innerchr12:102152733..102152849hg38UCSC Ensembl
Outerchr12:102152651..102152933hg38UCSC Ensembl
chr12:102546528..102546612hg19UCSC Ensembl
Innerchr12:102546511..102546627hg19UCSC Ensembl
Outerchr12:102546429..102546711hg19UCSC Ensembl
chr12:101070658..101070742hg18UCSC Ensembl
Innerchr12:101070757..101070641hg18UCSC Ensembl
Outerchr12:101070559..101070841hg18UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8672211, essv8672210
SamplesNA19239, NA19240
Known GenesPARPBP
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3382474
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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