A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13618620



Internal ID3216364
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:123913633..123917506hg38UCSC Ensembl
chr9:126675912..126679785hg19UCSC Ensembl
Cytoband9q33.3
Allele length
AssemblyAllele length
hg383874
hg193874
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3621703
Supporting Variants
SamplesHG02819
Known GenesDENND1A
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13618620
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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