A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548963



Internal ID18750039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:29127361..29127591hg38UCSC Ensembl
Outerchr12:29127295..29127645hg38UCSC Ensembl
Innerchr12:29280294..29280524hg19UCSC Ensembl
Outerchr12:29280228..29280578hg19UCSC Ensembl
Cytoband12p11.22
Allele length
AssemblyAllele length
hg38351
hg19351
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747710
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548963
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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