A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674619



Internal ID9940724
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr3:52965421..52965890hg38UCSC Ensembl
Outerchr3:52965384..52965940hg38UCSC Ensembl
Innerchr3:52999437..52999906hg19UCSC Ensembl
Outerchr3:52999400..52999956hg19UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38557
hg19557
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5877413
SamplesNA19072
Known GenesSFMBT1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674619
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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