A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3543294



Internal ID18744370
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr8:30534778..30535061hg38UCSC Ensembl
Outerchr8:30534721..30535086hg38UCSC Ensembl
Innerchr8:30392295..30392578hg19UCSC Ensembl
Outerchr8:30392238..30392603hg19UCSC Ensembl
Cytoband8p12
Allele length
AssemblyAllele length
hg38366
hg19366
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9742041
Samples
Known GenesRBPMS
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3543294
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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