A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5850083



Internal ID9563345
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:116288802..116293451hg38UCSC Ensembl
chr1:116831424..116836073hg19UCSC Ensembl
Cytoband1p13.1
Allele length
AssemblyAllele length
hg384650
hg194650
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv2677854
Supporting Variants
SamplesNA19107
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5850083
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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