A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2659944



Internal ID9926049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:185876571..185880059hg38UCSC Ensembl
chr3:185594359..185597847hg19UCSC Ensembl
Cytoband3q27.2
Allele length
AssemblyAllele length
hg383489
hg193489
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6089766, essv5936540
SamplesNA19456, NA19334
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2659944
Frequency
Sample Size1151
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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