A curated catalogue of human genomic structural variation




Variant Details

Variant: essv10946449



Internal ID1181483
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:20972954..20977119hg38UCSC Ensembl
chr3:21014446..21018611hg19UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg384166
hg194166
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3595497
Supporting Variants
SamplesHG01060
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv10946449
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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