A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14301609



Internal ID6064550
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124037196..124050901hg38UCSC Ensembl
Innerchr11:124037696..124050401hg38UCSC Ensembl
Outerchr11:124036196..124051901hg38UCSC Ensembl
chr11:123907903..123921608hg19UCSC Ensembl
Innerchr11:123908403..123921108hg19UCSC Ensembl
Outerchr11:123906903..123922608hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3813706
hg1913706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627969
Supporting Variants
SamplesNA19455
Known GenesOR10G7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14301609
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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