A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11261371



Internal ID5570960
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:188009638..188010682hg38UCSC Ensembl
Innerchr3:188009688..188010632hg38UCSC Ensembl
Outerchr3:188009588..188010732hg38UCSC Ensembl
chr3:187727426..187728470hg19UCSC Ensembl
Innerchr3:187727476..187728420hg19UCSC Ensembl
Outerchr3:187727376..187728520hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381045
hg191045
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599017
Supporting Variants
SamplesNA19019
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11261371
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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