A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3440458



Internal ID15287411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:55143119..55143125hg38UCSC Ensembl
Innerchr6:55143111..55143131hg38UCSC Ensembl
Outerchr6:55143105..55143139hg38UCSC Ensembl
chr6:55007917..55007923hg19UCSC Ensembl
Innerchr6:55007909..55007929hg19UCSC Ensembl
Outerchr6:55007903..55007937hg19UCSC Ensembl
chr6:55115876..55115882hg18UCSC Ensembl
Innerchr6:55115888..55115868hg18UCSC Ensembl
Outerchr6:55115862..55115896hg18UCSC Ensembl
Cytoband6p12.1
Allele length
AssemblyAllele length
hg38251
hg19251
hg18251
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8929752, essv8929760, essv8929773, essv8929755, essv8929774, essv8929756, essv8929769, essv8929762, essv8929765, essv8929750, essv8929761, essv8929754, essv8929753, essv8929772, essv8929771, essv8929767, essv8929764, essv8929763, essv8929758, essv8929766, essv8929770, essv8929759, essv8929751
SamplesNA18502, NA12717, NA10851, NA11920, NA12045, NA12004, NA18870, NA18489, NA18960, NA11918, NA07347, NA19138, NA18498, NA18638, NA18516, NA18907, NA12249, NA19108, NA19147, NA18501, NA12749, NA19129, NA12154
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3440458
Frequency
Sample Size185
Observed Gain23
Observed Loss0
Observed Complex0
Frequencyn/a


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