A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14219953



Internal ID5061723
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:83846373..83890278hg38UCSC Ensembl
chr11:83557416..83601321hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg3843906
hg1943906
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627028
Supporting Variants
SamplesNA18536
Known GenesDLG2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14219953
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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