A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5444894



Internal ID9626230
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:47482794..47491678hg38UCSC Ensembl
Outerchr3:47482757..47491728hg38UCSC Ensembl
Innerchr3:47524284..47533168hg19UCSC Ensembl
Outerchr3:47524247..47533218hg19UCSC Ensembl
Cytoband3p21.31
Allele length
AssemblyAllele length
hg388972
hg198972
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2664959
Supporting Variants
SamplesNA19346
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5444894
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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