A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748657



Internal ID18376217
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:122525809..122526113hg38UCSC Ensembl
Outerchr12:122525745..122526172hg38UCSC Ensembl
Innerchr12:123010356..123010660hg19UCSC Ensembl
Outerchr12:123010292..123010719hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38428
hg19428
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3549910
Supporting Variants
Samples
Known GenesRSRC2
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748657
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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