A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14036076



Internal ID6717716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:16850599..16855780hg38UCSC Ensembl
Innerchr11:16850606..16855773hg38UCSC Ensembl
Outerchr11:16850592..16855787hg38UCSC Ensembl
chr11:16872146..16877327hg19UCSC Ensembl
Innerchr11:16872153..16877320hg19UCSC Ensembl
Outerchr11:16872139..16877334hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg385182
hg195182
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625457
Supporting Variants
SamplesNA20849
Known GenesPLEKHA7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14036076
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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