A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14231040



Internal ID4232856
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:90231560..90283025hg38UCSC Ensembl
chr11:89964728..90016193hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg3851466
hg1951466
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627197
Supporting Variants
SamplesNA19355
Known GenesDISC1FP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14231040
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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