A curated catalogue of human genomic structural variation




Variant Details

Variant: esv996338



Internal ID6732282
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:27281062..27281392hg38UCSC Ensembl
chr12:27433995..27434325hg19UCSC Ensembl
chr12:27325262..27325592hg18UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg38331
hg19331
hg18331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3584433
SamplesHuRef
Known GenesSTK38L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv996338
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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