A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2676156



Internal ID9595575
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:160516271..160517868hg38UCSC Ensembl
chr3:160234059..160235656hg19UCSC Ensembl
Cytoband3q25.33
Allele length
AssemblyAllele length
hg381598
hg191598
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6146351, essv6527237, essv5795933, essv5662502, essv6348362, essv6488799, essv6226357, essv5458024
SamplesNA19722, NA18867, NA18871, NA19318, NA19625, NA19444, NA18873, NA19430
Known GenesKPNA4
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2676156
Frequency
Sample Size1151
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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