A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549898



Internal ID18404288
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121851692..121852020hg38UCSC Ensembl
Outerchr12:121851611..121852095hg38UCSC Ensembl
Innerchr12:122289598..122289926hg19UCSC Ensembl
Outerchr12:122289517..122290001hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg38485
hg19485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748645
Samples
Known GenesHPD
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549898
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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