A curated catalogue of human genomic structural variation




Variant Details

Variant: essv11014141



Internal ID4672455
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:53425188..53426261hg38UCSC Ensembl
Innerchr3:53425189..53426260hg38UCSC Ensembl
Outerchr3:53425187..53426262hg38UCSC Ensembl
chr3:53459215..53460288hg19UCSC Ensembl
Innerchr3:53459216..53460287hg19UCSC Ensembl
Outerchr3:53459214..53460289hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg381074
hg191074
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3596169
Supporting Variants
SamplesHG04198
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv11014141
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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