A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14174900



Internal ID4176716
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:60085948..60101194hg38UCSC Ensembl
chr11:59853421..59868667hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg3815247
hg1915247
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626548
Supporting Variants
SamplesNA18864
Known GenesMS4A2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14174900
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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