A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563966



Internal ID6688349
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:110366657..110376566hg38UCSC Ensembl
Outerchr12:110804462..110814371hg19UCSC Ensembl
Outerchr12:109288845..109298754hg18UCSC Ensembl
Cytoband12q24.11
Allele length
AssemblyAllele length
hg389910
hg199910
hg189910
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001296
Supporting Variants
SamplesHuRef
Known GenesANAPC7
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563966
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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