A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412403



Internal ID15259362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:143294577..143294577hg38UCSC Ensembl
Innerchr6:143294576..143294578hg38UCSC Ensembl
Outerchr6:143294527..143294627hg38UCSC Ensembl
chr6:143615714..143615714hg19UCSC Ensembl
Innerchr6:143615713..143615715hg19UCSC Ensembl
Outerchr6:143615664..143615764hg19UCSC Ensembl
chr6:143657407..143657407hg18UCSC Ensembl
Innerchr6:143657408..143657406hg18UCSC Ensembl
Outerchr6:143657357..143657457hg18UCSC Ensembl
Cytoband6q24.2
Allele length
AssemblyAllele length
hg381283
hg191283
hg181283
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741224
SamplesNA19240
Known GenesAIG1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412403
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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