A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11261073



Internal ID5097270
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:187246651..187247918hg38UCSC Ensembl
Innerchr3:187246688..187247881hg38UCSC Ensembl
Outerchr3:187246614..187247955hg38UCSC Ensembl
chr3:186964439..186965706hg19UCSC Ensembl
Innerchr3:186964476..186965669hg19UCSC Ensembl
Outerchr3:186964402..186965743hg19UCSC Ensembl
Cytoband3q27.3
Allele length
AssemblyAllele length
hg381268
hg191268
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3599008
Supporting Variants
SamplesNA18550
Known GenesMASP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11261073
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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