A curated catalogue of human genomic structural variation




Variant Details

Variant: esv991305



Internal ID6727269
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:132316989..132316989hg38UCSC Ensembl
chr12:132893575..132893575hg19UCSC Ensembl
chr12:131403648..131403648hg18UCSC Ensembl
Cytoband12q24.33
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572749
SamplesHuRef
Known GenesGALNT9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv991305
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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