A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000854



Internal ID7065983
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 State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3579434
SamplesHuRef
Known GenesBTBD11
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000854
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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