A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688503



Internal ID15082158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:70025098..70026596hg38UCSC Ensembl
Innerchr11:70025596..70026098hg38UCSC Ensembl
Outerchr11:70024098..70027596hg38UCSC Ensembl
chr11:69871204..69872702hg19UCSC Ensembl
Innerchr11:69871702..69872204hg19UCSC Ensembl
Outerchr11:69870204..69873702hg19UCSC Ensembl
chr11:69548852..69550350hg18UCSC Ensembl
Innerchr11:69549852..69549350hg18UCSC Ensembl
Outerchr11:69547852..69551350hg18UCSC Ensembl
Cytoband11q13.3
Allele length
AssemblyAllele length
hg381499
hg191499
hg181499
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3411474
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688503
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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