A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549239



Internal ID18403629
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:54414628..54414877hg38UCSC Ensembl
Outerchr12:54414573..54414903hg38UCSC Ensembl
Innerchr12:54808412..54808661hg19UCSC Ensembl
Outerchr12:54808357..54808687hg19UCSC Ensembl
Cytoband12q13.13
Allele length
AssemblyAllele length
hg38331
hg19331
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747986
Samples
Known GenesITGA5
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549239
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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