A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7180839



Internal ID10112435
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132320628..132320628hg38UCSC Ensembl
chr12:132897214..132897214hg19UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3850
hg1950
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2911272
Supporting Variants
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7180839
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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