A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1010041



Internal ID7059735
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:105065999..105073825hg38UCSC Ensembl
Outerchr12:105459777..105467603hg19UCSC Ensembl
Outerchr12:103983907..103991733hg18UCSC Ensembl
Cytoband12q23.3
Allele length
AssemblyAllele length
hg387827
hg197827
hg187827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563538
SamplesHuRef
Known GenesALDH1L2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1010041
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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