A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3292385



Internal ID10965365
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:88736212..88736542hg38UCSC Ensembl
Outerchr5:88032029..88032359hg19UCSC Ensembl
Cytoband5q14.3
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7561952
SamplesHuRef
Known GenesMEF2C
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)esv3292385
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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