A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992665



Internal ID6330234
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1421843..1440353hg38UCSC Ensembl
chr11:1443073..1461583hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3818511
hg1918511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625111
Supporting Variants
SamplesNA19923
Known GenesBRSK2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992665
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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