A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3325641



Internal ID15172623
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:123510152..123512650hg38UCSC Ensembl
Innerchr12:123511152..123511650hg38UCSC Ensembl
Outerchr12:123509152..123513650hg38UCSC Ensembl
chr12:123994699..123997197hg19UCSC Ensembl
Innerchr12:123995699..123996197hg19UCSC Ensembl
Outerchr12:123993699..123998197hg19UCSC Ensembl
chr12:122560652..122563150hg18UCSC Ensembl
Innerchr12:122561652..122562150hg18UCSC Ensembl
Outerchr12:122559652..122564150hg18UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg382499
hg192499
hg182499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv927e59
Supporting Variantsessv8688574
SamplesNA19238
Known GenesRILPL1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3325641
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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