A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5707334



Internal ID9440803
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:54898242..54903527hg38UCSC Ensembl
chr1:55363915..55369200hg19UCSC Ensembl
Cytoband1p32.3
Allele length
AssemblyAllele length
hg385286
hg195286
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674927
Supporting Variants
SamplesNA18853
Known Genes
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5707334
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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