A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3583619



Internal ID7055001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132759130..132759216hg38UCSC Ensembl
chr12:133335716..133335802hg19UCSC Ensembl
chr12:131845789..131845875hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3887
hg1987
hg1887
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009039
Supporting Variants
SamplesHuRef
Known GenesANKLE2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3583619
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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