A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14103193



Internal ID5088530
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:40014842..40020300hg38UCSC Ensembl
Innerchr11:40014842..40020300hg38UCSC Ensembl
Outerchr11:40014577..40020547hg38UCSC Ensembl
chr11:40036392..40041850hg19UCSC Ensembl
Innerchr11:40036392..40041850hg19UCSC Ensembl
Outerchr11:40036127..40042097hg19UCSC Ensembl
Cytoband11p12
Allele length
AssemblyAllele length
hg385459
hg195459
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626055
Supporting Variants
SamplesNA18547
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14103193
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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