A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997744



Internal ID6733685
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:103748280..103752731hg38UCSC Ensembl
Outerchr12:104142058..104146509hg19UCSC Ensembl
Outerchr12:102666188..102670639hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg384452
hg194452
hg184452
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563855
SamplesHuRef
Known GenesSTAB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997744
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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