A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5471972



Internal ID8449375
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:149123392..149138129hg38UCSC Ensembl
Outerchr3:149123355..149138179hg38UCSC Ensembl
Innerchr3:148841179..148855916hg19UCSC Ensembl
Outerchr3:148841142..148855966hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3814825
hg1914825
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2672056
Supporting Variants
SamplesNA20799
Known GenesHPS3
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5471972
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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