A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3595895



Internal ID6636169
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:37668483..37876957hg38UCSC Ensembl
chr3:37709974..37918448hg19UCSC Ensembl
Cytoband3p22.2
Allele length
AssemblyAllele length
hg38208475
hg19208475
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv10983314
SamplesHG02595
Known GenesCTDSPL, ITGA9
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3595895
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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