A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675183



Internal ID9594602
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:62678723..62709997hg38UCSC Ensembl
chr3:62664398..62695672hg19UCSC Ensembl
Cytoband3p14.2
Allele length
AssemblyAllele length
hg3831275
hg1931275
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6002281, essv6351841
SamplesNA18505, NA19711
Known GenesCADPS
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675183
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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