A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11236231



Internal ID6211737
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:177012515..177159025hg38UCSC Ensembl
chr3:176730303..176876813hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg38146511
hg19146511
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598784
Supporting Variants
SamplesNA19740
Known GenesTBL1XR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11236231
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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