A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14179724



Internal ID4181540
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:62506393..62530472hg38UCSC Ensembl
chr11:62273865..62297944hg19UCSC Ensembl
Cytoband11q12.3
Allele length
AssemblyAllele length
hg3824080
hg1924080
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626611
Supporting Variants
SamplesHG02721
Known GenesAHNAK
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14179724
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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