A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14120111



Internal ID4121927
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47252421..47253126hg38UCSC Ensembl
Innerchr11:47252471..47253076hg38UCSC Ensembl
Outerchr11:47252371..47253176hg38UCSC Ensembl
chr11:47273972..47274677hg19UCSC Ensembl
Innerchr11:47274022..47274627hg19UCSC Ensembl
Outerchr11:47273922..47274727hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg38706
hg19706
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626200
Supporting Variants
SamplesHG04159
Known GenesNR1H3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14120111
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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