A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14213988



Internal ID4215804
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74697134..74817798hg38UCSC Ensembl
chr11:74408179..74528843hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38120665
hg19120665
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626846
Supporting Variants
SamplesNA18582
Known GenesCHRDL2, MIR4696, RNF169
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14213988
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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