A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3821855



Internal ID11940016
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 StateHomozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1648435
Supporting Variants
SamplesHuRef
Known GenesTXNRD1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)essv3821855
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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