A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3419178



Internal ID15266136
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:93143453..93143472hg38UCSC Ensembl
Innerchr6:93143449..93143476hg38UCSC Ensembl
Outerchr6:93143430..93143495hg38UCSC Ensembl
chr6:93853171..93853190hg19UCSC Ensembl
Innerchr6:93853167..93853194hg19UCSC Ensembl
Outerchr6:93853148..93853213hg19UCSC Ensembl
chr6:93909892..93909911hg18UCSC Ensembl
Innerchr6:93909915..93909888hg18UCSC Ensembl
Outerchr6:93909869..93909934hg18UCSC Ensembl
Cytoband6q16.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8679207
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3419178
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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