A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14293196



Internal ID4295012
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118410960..118412452hg38UCSC Ensembl
Innerchr11:118410994..118412419hg38UCSC Ensembl
Outerchr11:118410927..118412486hg38UCSC Ensembl
chr11:118281675..118283167hg19UCSC Ensembl
Innerchr11:118281709..118283134hg19UCSC Ensembl
Outerchr11:118281642..118283201hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg381493
hg191493
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627869
Supporting Variants
SamplesNA19095
Known GenesLOC100131626
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14293196
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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