A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3549895



Internal ID18404285
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr12:121571772..121572953hg38UCSC Ensembl
Outerchr12:121571677..121572965hg38UCSC Ensembl
Innerchr12:122009677..122010858hg19UCSC Ensembl
Outerchr12:122009582..122010870hg19UCSC Ensembl
Cytoband12q24.31
Allele length
AssemblyAllele length
hg381289
hg191289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9748642
Samples
Known GenesKDM2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3549895
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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