A curated catalogue of human genomic structural variation




Variant Details

Variant: esv999221



Internal ID7064857
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:29007646..29012052hg38UCSC Ensembl
Outerchr12:29160579..29164985hg19UCSC Ensembl
Outerchr12:29051846..29056252hg18UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg384407
hg194407
hg184407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563637
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv999221
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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