A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1648435



Internal ID12811554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:104261896..104262095hg38UCSC Ensembl
chr12:104655674..104655873hg19UCSC Ensembl
chr12:103179804..103180003hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg38200
hg19200
hg18200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3821855
SamplesHuRef
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1648435
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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