A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14290149



Internal ID812182
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:116062473..116073129hg38UCSC Ensembl
Innerchr11:116062494..116073108hg38UCSC Ensembl
Outerchr11:116062452..116073150hg38UCSC Ensembl
chr11:115933191..115943847hg19UCSC Ensembl
Innerchr11:115933212..115943826hg19UCSC Ensembl
Outerchr11:115933170..115943868hg19UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg3810657
hg1910657
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627819
Supporting Variants
SamplesHG00384
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14290149
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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