A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3438349



Internal ID14938616
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:125232830..125232844hg38UCSC Ensembl
Innerchr11:125232832..125232842hg38UCSC Ensembl
Outerchr11:125232828..125232846hg38UCSC Ensembl
chr11:125102726..125102740hg19UCSC Ensembl
Innerchr11:125102728..125102738hg19UCSC Ensembl
Outerchr11:125102724..125102742hg19UCSC Ensembl
chr11:124607936..124607950hg18UCSC Ensembl
Innerchr11:124607938..124607948hg18UCSC Ensembl
Outerchr11:124607934..124607952hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865534, essv7865535
SamplesNA18520, NA18871
Known GenesPKNOX2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3438349
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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