A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3384279



Internal ID15231249
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:50867119..50867119hg38UCSC Ensembl
Innerchr6:50867118..50867120hg38UCSC Ensembl
Outerchr6:50867069..50867169hg38UCSC Ensembl
chr6:50834832..50834832hg19UCSC Ensembl
Innerchr6:50834831..50834833hg19UCSC Ensembl
Outerchr6:50834782..50834882hg19UCSC Ensembl
chr6:50942791..50942791hg18UCSC Ensembl
Innerchr6:50942792..50942790hg18UCSC Ensembl
Outerchr6:50942741..50942841hg18UCSC Ensembl
Cytoband6p12.3
Allele length
AssemblyAllele length
hg38538
hg19538
hg18538
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8741259
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3384279
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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