A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5523906



Internal ID8501309
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:152354960..152355191hg38UCSC Ensembl
chr1:152327436..152327667hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg38232
hg19232
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2663079
Supporting Variants
SamplesHG01356
Known GenesFLG2, FLG-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5523906
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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