A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563589



Internal ID6688631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:111890837..111902032hg38UCSC Ensembl
Outerchr12:112328641..112339836hg19UCSC Ensembl
Outerchr12:110813024..110824219hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg3811196
hg1911196
hg1811196
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010936
Supporting Variants
SamplesHuRef
Known GenesADAM1A, MAPKAPK5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563589
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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