A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14168336



Internal ID746140
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:56666942..56671730hg38UCSC Ensembl
chr11:56434418..56439206hg19UCSC Ensembl
Cytoband11q12.1
Allele length
AssemblyAllele length
hg384789
hg194789
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626490
Supporting Variants
SamplesHG00351
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14168336
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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