A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398325



Internal ID15245288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:13718232..13718258hg38UCSC Ensembl
Innerchr6:13718235..13718253hg38UCSC Ensembl
Outerchr6:13718209..13718279hg38UCSC Ensembl
chr6:13718464..13718490hg19UCSC Ensembl
Innerchr6:13718467..13718485hg19UCSC Ensembl
Outerchr6:13718441..13718511hg19UCSC Ensembl
chr6:13826443..13826469hg18UCSC Ensembl
Innerchr6:13826464..13826446hg18UCSC Ensembl
Outerchr6:13826420..13826490hg18UCSC Ensembl
Cytoband6p23
Allele length
AssemblyAllele length
hg38220
hg19220
hg18220
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676224, essv8676222, essv8676223
SamplesNA12891, NA19239, NA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398325
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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