A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994478



Internal ID7079128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:95838648..95844220hg38UCSC Ensembl
Outerchr12:96232426..96237998hg19UCSC Ensembl
Outerchr12:94756557..94762129hg18UCSC Ensembl
Cytoband12q22
Allele length
AssemblyAllele length
hg385573
hg195573
hg185573
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564084
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994478
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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