A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548605



Internal ID18402995
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:919745..920413hg38UCSC Ensembl
Outerchr12:919584..920542hg38UCSC Ensembl
Innerchr12:1028911..1029579hg19UCSC Ensembl
Outerchr12:1028750..1029708hg19UCSC Ensembl
Cytoband12p13.33
Allele length
AssemblyAllele length
hg38959
hg19959
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747352
Samples
Known GenesRAD52
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548605
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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