A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8955074



Internal ID13646240
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128497925..128497947hg38UCSC Ensembl
Innerchr11:128497926..128497943hg38UCSC Ensembl
Outerchr11:128497907..128497965hg38UCSC Ensembl
chr11:128367820..128367842hg19UCSC Ensembl
Innerchr11:128367821..128367838hg19UCSC Ensembl
Outerchr11:128367802..128367860hg19UCSC Ensembl
chr11:127873030..127873052hg18UCSC Ensembl
Innerchr11:127873048..127873031hg18UCSC Ensembl
Outerchr11:127873012..127873070hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg38161
hg19161
hg18161
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3325680
Supporting Variants
SamplesNA18545
Known GenesETS1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8955074
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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