A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9748642



Internal ID18376202
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 StatusS
Merged Variantsesv3549895
Supporting Variants
Samples
Known GenesKDM2B
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9748642
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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