A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7438212



Internal ID10369808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:120733535..120733595hg38UCSC Ensembl
chr12:121171338..121171398hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg3861
hg1961
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3168645
Supporting Variants
SamplesHuRef
Known GenesACADS
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7438212
Frequency
Sample Size1
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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