A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1004944



Internal ID6717068
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:112166125..112172944hg38UCSC Ensembl
Outerchr12:112603929..112610748hg19UCSC Ensembl
Outerchr12:111088312..111095131hg18UCSC Ensembl
Cytoband12q24.13
Allele length
AssemblyAllele length
hg386820
hg196820
hg186820
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565433
SamplesHuRef
Known GenesHECTD4
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1004944
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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