A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3400314



Internal ID14900591
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:155245757..155245770hg38UCSC Ensembl
Innerchr6:155245759..155245768hg38UCSC Ensembl
Outerchr6:155245755..155245772hg38UCSC Ensembl
chr6:155566891..155566904hg19UCSC Ensembl
Innerchr6:155566893..155566902hg19UCSC Ensembl
Outerchr6:155566889..155566906hg19UCSC Ensembl
chr6:155608583..155608596hg18UCSC Ensembl
Innerchr6:155608585..155608594hg18UCSC Ensembl
Outerchr6:155608581..155608598hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864670
SamplesNA12005
Known GenesTIAM2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3400314
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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