A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865474



Internal ID13863675
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:44368699..44368716hg38UCSC Ensembl
Innerchr11:44368672..44368743hg38UCSC Ensembl
Outerchr11:44368655..44368760hg38UCSC Ensembl
chr11:44390249..44390266hg19UCSC Ensembl
Innerchr11:44390222..44390293hg19UCSC Ensembl
Outerchr11:44390205..44390310hg19UCSC Ensembl
chr11:44346825..44346842hg18UCSC Ensembl
Innerchr11:44346869..44346798hg18UCSC Ensembl
Outerchr11:44346781..44346886hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3853
hg1953
hg1853
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3413075
Supporting Variants
SamplesNA18516
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865474
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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