A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549024



Internal ID18403414
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:32290123..32290226hg38UCSC Ensembl
Outerchr12:32290121..32290227hg38UCSC Ensembl
Innerchr12:32443057..32443160hg19UCSC Ensembl
Outerchr12:32443055..32443161hg19UCSC Ensembl
Cytoband12p11.21
Allele length
AssemblyAllele length
hg38107
hg19107
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747771
Samples
Known GenesBICD1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549024
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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