A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11310315



Internal ID1312131
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197568268..197620119hg38UCSC Ensembl
chr3:197295139..197346990hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3851852
hg1951852
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599314
Supporting Variants
SamplesNA18510
Known GenesBDH1, LOC220729
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11310315
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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