A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14243548



Internal ID2819140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95471164..95473547hg38UCSC Ensembl
Innerchr11:95471187..95473525hg38UCSC Ensembl
Outerchr11:95471142..95473570hg38UCSC Ensembl
chr11:95204328..95206711hg19UCSC Ensembl
Innerchr11:95204351..95206689hg19UCSC Ensembl
Outerchr11:95204306..95206734hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg382384
hg192384
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627352
Supporting Variants
SamplesHG02490
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14243548
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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