A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1160630



Internal ID11977067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132291130..132291265hg38UCSC Ensembl
chr12:132867716..132867851hg19UCSC Ensembl
chr12:131377789..131377924hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38136
hg19136
hg18136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3912748
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1160630
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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