A curated catalogue of human genomic structural variation




Variant Details

Variant: esv994937



Internal ID6730887
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr12:1774935..1775067hg38UCSC Ensembl
chr12:1884101..1884233hg19UCSC Ensembl
chr12:1754362..1754494hg18UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38133
hg19133
hg18133
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569034
SamplesHuRef
Known GenesADIPOR2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv994937
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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