A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11161221



Internal ID3525679
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:140255474..140373589hg38UCSC Ensembl
chr3:139974316..140092431hg19UCSC Ensembl
Cytoband3q23
Allele length
AssemblyAllele length
hg38118116
hg19118116
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597956
Supporting Variants
SamplesHG03120
Known GenesCLSTN2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11161221
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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