A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2675741



Internal ID9941846
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:176430386..176430589hg38UCSC Ensembl
chr5:175857387..175857590hg19UCSC Ensembl
Cytoband5q35.2
Allele length
AssemblyAllele length
hg38204
hg19204
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6110168, essv5410243, essv6322378, essv6085163, essv6024093, essv6145465, essv6528640
SamplesNA19394, HG01098, NA19359, HG01070, HG01069, HG01073, NA06986
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2675741
Frequency
Sample Size1151
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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