A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676224



Internal ID13725245
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 StatusS
Merged Variantsesv3398325
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676224
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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