A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3308076



Internal ID14808338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:161231393..161231394hg38UCSC Ensembl
Innerchr6:161231342..161231445hg38UCSC Ensembl
Outerchr6:161231341..161231446hg38UCSC Ensembl
chr6:161652425..161652426hg19UCSC Ensembl
Innerchr6:161652374..161652477hg19UCSC Ensembl
Outerchr6:161652373..161652478hg19UCSC Ensembl
chr6:161572415..161572416hg18UCSC Ensembl
Innerchr6:161572467..161572364hg18UCSC Ensembl
Outerchr6:161572363..161572468hg18UCSC Ensembl
Cytoband6q26
Allele length
AssemblyAllele length
hg38188
hg19188
hg18188
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838564
SamplesNA19238
Known GenesAGPAT4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3308076
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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