A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3363465



Internal ID15210443
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:52672279..52672311hg38UCSC Ensembl
Innerchr6:52672276..52672311hg38UCSC Ensembl
Outerchr6:52672244..52672343hg38UCSC Ensembl
chr6:52537077..52537109hg19UCSC Ensembl
Innerchr6:52537074..52537109hg19UCSC Ensembl
Outerchr6:52537042..52537141hg19UCSC Ensembl
chr6:52645036..52645068hg18UCSC Ensembl
Innerchr6:52645068..52645033hg18UCSC Ensembl
Outerchr6:52645001..52645100hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38242
hg19242
hg18242
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676448, essv8676449
SamplesNA12878, NA12892
Known GenesTMEM14A
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3363465
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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