A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995599



Internal ID7080022
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr12:54372295..54385399hg38UCSC Ensembl
Outerchr12:54766079..54779183hg19UCSC Ensembl
Outerchr12:53052346..53065450hg18UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg3813105
hg1913105
hg1813105
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565480
SamplesHuRef
Known GenesZNF385A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995599
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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