A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11236230



Internal ID1238046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:176984480..177075812hg38UCSC Ensembl
chr3:176702268..176793600hg19UCSC Ensembl
Cytoband3q26.32
Allele length
AssemblyAllele length
hg3891333
hg1991333
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3598783
Supporting Variants
SamplesNA19740
Known GenesTBL1XR1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11236230
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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