A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2657917



Internal ID9577336
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:23148748..23153604hg38UCSC Ensembl
chr1:23475241..23480097hg19UCSC Ensembl
Cytoband1p36.12
Allele length
AssemblyAllele length
hg384857
hg194857
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6554828, essv6296524, essv6335031, essv5401802
SamplesHG00171, HG00375, HG00266, HG00284
Known GenesLUZP1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2657917
Frequency
Sample Size1151
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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