A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1270072



Internal ID12086509
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:512482..512659hg38UCSC Ensembl
chr12:621648..621825hg19UCSC Ensembl
chr12:491909..492086hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38178
hg19178
hg18178
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3949934
SamplesHuRef
Known GenesB4GALNT3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1270072
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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