A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548928



Internal ID18403318
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:27495861..27501750hg38UCSC Ensembl
Outerchr12:27495068..27502567hg38UCSC Ensembl
Innerchr12:27648794..27654683hg19UCSC Ensembl
Outerchr12:27648001..27655500hg19UCSC Ensembl
Cytoband12p11.23
Allele length
AssemblyAllele length
hg387500
hg197500
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747675
Samples
Known GenesSMCO2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548928
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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