A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11308547



Internal ID1781130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:196664768..196667851hg38UCSC Ensembl
chr3:196391639..196394722hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg383084
hg193084
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599292
Supporting Variants
SamplesHG01668
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11308547
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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