A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11309944



Internal ID1311760
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:197291633..197300133hg38UCSC Ensembl
chr3:197018504..197027004hg19UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg388501
hg198501
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599304
Supporting Variants
SamplesNA18608
Known GenesDLG1, DLG1-AS1, MIR4797
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11309944
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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