A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597411



Internal ID6637681
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:112370335..112505030hg38UCSC Ensembl
chr3:112089182..112223877hg19UCSC Ensembl
Cytoband3q13.2
Allele length
AssemblyAllele length
hg38134696
hg19134696
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11103872
SamplesNA19785
Known GenesBTLA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597411
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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