A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3391438



Internal ID15238405
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:112395823..112395829hg38UCSC Ensembl
Innerchr6:112395825..112395827hg38UCSC Ensembl
Outerchr6:112395821..112395831hg38UCSC Ensembl
chr6:112717025..112717031hg19UCSC Ensembl
Innerchr6:112717027..112717029hg19UCSC Ensembl
Outerchr6:112717023..112717033hg19UCSC Ensembl
chr6:112823718..112823724hg18UCSC Ensembl
Innerchr6:112823720..112823722hg18UCSC Ensembl
Outerchr6:112823716..112823726hg18UCSC Ensembl
Cytoband6q21
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864637
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3391438
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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