A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14009300



Internal ID4011116
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:6460034..6490367hg38UCSC Ensembl
chr11:6481264..6511597hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg3830334
hg1930334
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625266
Supporting Variants
SamplesNA18870
Known GenesARFIP2, TIMM10B, TRIM3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14009300
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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