A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2671405



Internal ID9937510
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148249661..148251188hg38UCSC Ensembl
chr3:147967448..147968975hg19UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg381528
hg191528
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6290520
SamplesHG00640
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2671405
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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