A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14213954



Internal ID4215770
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:74371082..74464389hg38UCSC Ensembl
chr11:74082127..74175434hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg3893308
hg1993308
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626840
Supporting Variants
SamplesNA18582
Known GenesKCNE3, PGM2L1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14213954
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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