A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11156205



Internal ID1689819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134293043..134296390hg38UCSC Ensembl
Innerchr3:134293097..134296337hg38UCSC Ensembl
Outerchr3:134292990..134296444hg38UCSC Ensembl
chr3:134011885..134015232hg19UCSC Ensembl
Innerchr3:134011939..134015179hg19UCSC Ensembl
Outerchr3:134011832..134015286hg19UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg383348
hg193348
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3597855
Supporting Variants
SamplesHG01566
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11156205
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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