A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3393967



Internal ID14894246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135380351..135380351hg38UCSC Ensembl
Innerchr6:135380350..135380352hg38UCSC Ensembl
Outerchr6:135380301..135380401hg38UCSC Ensembl
chr6:135701489..135701489hg19UCSC Ensembl
Innerchr6:135701488..135701490hg19UCSC Ensembl
Outerchr6:135701439..135701539hg19UCSC Ensembl
chr6:135743182..135743182hg18UCSC Ensembl
Innerchr6:135743183..135743181hg18UCSC Ensembl
Outerchr6:135743132..135743232hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38437
hg19437
hg18437
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741223
SamplesNA19240
Known GenesAHI1, MIR548H4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3393967
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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