A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7481201



Internal ID10412797
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:5457106..5457206hg38UCSC Ensembl
chr18:5457105..5457205hg19UCSC Ensembl
Cytoband18p11.31
Allele length
AssemblyAllele length
hg38101
hg19101
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3211634
Supporting Variants
SamplesHuRef
Known GenesEPB41L3
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7481201
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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