A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2674821



Internal ID9940926
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:159800641..159800944hg38UCSC Ensembl
chr3:159518430..159518733hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg38304
hg19304
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5430072, essv5977836, essv5864550, essv5803204
SamplesNA11829, NA12340, NA20808, HG01083
Known GenesIQCJ-SCHIP1, SCHIP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2674821
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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