A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002994



Internal ID6715128
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132320632..132320632hg38UCSC Ensembl
chr12:132897218..132897218hg19UCSC Ensembl
chr12:131407291..131407291hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577146
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002994
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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