A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14085511



Internal ID2187482
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:33353420..33458856hg38UCSC Ensembl
chr11:33374966..33480402hg19UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38105437
hg19105437
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625880
Supporting Variants
SamplesHG01974
Known GenesHIPK3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14085511
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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