A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2664525



Internal ID9583944
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:177173116..177181976hg38UCSC Ensembl
chr5:176600117..176608977hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg388861
hg198861
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5609429
SamplesNA19394
Known GenesNSD1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2664525
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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