A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11009360



Internal ID1627026
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:49261871..49265351hg38UCSC Ensembl
Innerchr3:49261885..49265338hg38UCSC Ensembl
Outerchr3:49261858..49265365hg38UCSC Ensembl
chr3:49299304..49302784hg19UCSC Ensembl
Innerchr3:49299318..49302771hg19UCSC Ensembl
Outerchr3:49299291..49302798hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg383481
hg193481
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596122
Supporting Variants
SamplesHG01504
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11009360
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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