A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3597778



Internal ID6984916
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:131118306..131125136hg38UCSC Ensembl
Innerchr3:131118356..131125086hg38UCSC Ensembl
Outerchr3:131118256..131125186hg38UCSC Ensembl
chr3:130837150..130843980hg19UCSC Ensembl
Innerchr3:130837200..130843930hg19UCSC Ensembl
Outerchr3:130837100..130844030hg19UCSC Ensembl
Cytoband3q22.1
Allele length
AssemblyAllele length
hg386831
hg196831
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11151657
SamplesNA19347
Known GenesNEK11
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3597778
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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