A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549694



Internal ID18404084
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:101920293..101920382hg38UCSC Ensembl
Outerchr12:101920268..101920394hg38UCSC Ensembl
Innerchr12:102314071..102314160hg19UCSC Ensembl
Outerchr12:102314046..102314172hg19UCSC Ensembl
Cytoband12q23.2
Allele length
AssemblyAllele length
hg38127
hg19127
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv88e215
Supporting Variantsessv9748441
Samples
Known GenesDRAM1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549694
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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