A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3449331



Internal ID14949594
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35350614..35350636hg38UCSC Ensembl
Innerchr6:35350579..35350671hg38UCSC Ensembl
Outerchr6:35350557..35350693hg38UCSC Ensembl
chr6:35318391..35318413hg19UCSC Ensembl
Innerchr6:35318356..35318448hg19UCSC Ensembl
Outerchr6:35318334..35318470hg19UCSC Ensembl
chr6:35426369..35426391hg18UCSC Ensembl
Innerchr6:35426426..35426334hg18UCSC Ensembl
Outerchr6:35426312..35426448hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg3858
hg1958
hg1858
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864571, essv7864570
SamplesNA12005, NA18522
Known GenesPPARD
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3449331
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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