A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303211



Internal ID14803473
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:24298783..24298784hg38UCSC Ensembl
Innerchr12:24298761..24298806hg38UCSC Ensembl
Outerchr12:24298760..24298807hg38UCSC Ensembl
chr12:24451717..24451718hg19UCSC Ensembl
Innerchr12:24451695..24451740hg19UCSC Ensembl
Outerchr12:24451694..24451741hg19UCSC Ensembl
chr12:24342984..24342985hg18UCSC Ensembl
Innerchr12:24343007..24342962hg18UCSC Ensembl
Outerchr12:24342961..24343008hg18UCSC Ensembl
Cytoband12p12.1
Allele length
AssemblyAllele length
hg38295
hg19295
hg18295
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7764646, essv7768208, essv7768227, essv7769677, essv7767096, essv7766293
SamplesNA11894, NA12234, NA12892, NA12872, NA12891, NA12878
Known GenesSOX5
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303211
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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