A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999028



Internal ID6734958
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:47805518..47815349hg38UCSC Ensembl
Outerchr12:48199301..48209132hg19UCSC Ensembl
Outerchr12:46485568..46495399hg18UCSC Ensembl
Cytoband12q13.11
Allele length
AssemblyAllele length
hg389832
hg199832
hg189832
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565252
SamplesHuRef
Known GenesHDAC7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999028
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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