A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996584



Internal ID6732528
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132241048..132241303hg38UCSC Ensembl
chr12:132811899..132812168hg19UCSC Ensembl
chr12:131321972..131322241hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38256
hg19270
hg18270
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3583103
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996584
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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