A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9754525



Internal ID18382085
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr18:79409006..79409186hg38UCSC Ensembl
Outerchr18:79408949..79409232hg38UCSC Ensembl
Innerchr18:77169006..77169186hg19UCSC Ensembl
Outerchr18:77168949..77169232hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg38284
hg19284
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3555778
Supporting Variants
Samples
Known GenesNFATC1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9754525
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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