A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565389



Internal ID7036771
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:13390778..13399769hg38UCSC Ensembl
Outerchr12:13543712..13552703hg19UCSC Ensembl
Outerchr12:13434979..13443970hg18UCSC Ensembl
Cytoband12p13.1
Allele length
AssemblyAllele length
hg388992
hg198992
hg188992
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1007802
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565389
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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