A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999593



Internal ID7082201
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:43581126..43585767hg38UCSC Ensembl
Outerchr12:43974929..43979570hg19UCSC Ensembl
Outerchr12:42261196..42265837hg18UCSC Ensembl
Cytoband12q12
Allele length
AssemblyAllele length
hg384642
hg194642
hg184642
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563863
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999593
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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