A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3579434



Internal ID7050816
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:107608877..107608982hg38UCSC Ensembl
chr12:108002654..108002759hg19UCSC Ensembl
chr12:106526784..106526889hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38106
hg19106
hg18106
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1000854
Supporting Variants
SamplesHuRef
Known GenesBTBD11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3579434
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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