A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3627986



Internal ID6668130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:124740300..124752449hg38UCSC Ensembl
chr11:124610196..124622345hg19UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg3812150
hg1912150
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv14302143
SamplesNA18924
Known GenesNRGN, VSIG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3627986
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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