A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3397770



Internal ID14898047
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:49741612..49741632hg38UCSC Ensembl
Innerchr6:49741614..49741630hg38UCSC Ensembl
Outerchr6:49741610..49741634hg38UCSC Ensembl
chr6:49709325..49709345hg19UCSC Ensembl
Innerchr6:49709327..49709343hg19UCSC Ensembl
Outerchr6:49709323..49709347hg19UCSC Ensembl
chr6:49817284..49817304hg18UCSC Ensembl
Innerchr6:49817286..49817302hg18UCSC Ensembl
Outerchr6:49817282..49817306hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg3856
hg1956
hg1856
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864589
SamplesNA12005
Known GenesCRISP3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3397770
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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