A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3372842



Internal ID15219817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:11490133..11492031hg38UCSC Ensembl
Innerchr6:11491031..11491133hg38UCSC Ensembl
Outerchr6:11489133..11493031hg38UCSC Ensembl
chr6:11490366..11492264hg19UCSC Ensembl
Innerchr6:11491264..11491366hg19UCSC Ensembl
Outerchr6:11489366..11493264hg19UCSC Ensembl
chr6:11598352..11600250hg18UCSC Ensembl
Innerchr6:11599352..11599250hg18UCSC Ensembl
Outerchr6:11597352..11601250hg18UCSC Ensembl
Cytoband6p24.1
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv3447e59
Supporting Variantsessv8695026
SamplesNA19238
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3372842
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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