A curated catalogue of human genomic structural variation




Variant Details

Variant: essv5996880



Internal ID9303178
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:37143762..37144236hg38UCSC Ensembl
chr5:37143864..37144338hg19UCSC Ensembl
Cytoband5p13.2
Allele length
AssemblyAllele length
hg38475
hg19475
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2674155
Supporting Variants
SamplesNA18486
Known GenesC5orf42
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
Comments
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)essv5996880
Frequency
Sample Size1151
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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