A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14318016



Internal ID4319832
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:133083873..133288685hg38UCSC Ensembl
chr11:132953768..133158580hg19UCSC Ensembl
Cytoband11q25
Allele length
AssemblyAllele length
hg38204813
hg19204813
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3628139
Supporting Variants
SamplesHG03714
Known GenesOPCML
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14318016
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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