A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11310306



Internal ID1312122
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197393955..197584204hg38UCSC Ensembl
chr3:197120826..197311075hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg38190250
hg19190250
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599309
Supporting Variants
SamplesHG02574
Known GenesBDH1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11310306
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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