A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3548744



Internal ID18403134
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:235135111..235135268hg38UCSC Ensembl
Outerchr1:235135084..235135299hg38UCSC Ensembl
Innerchr1:235298426..235298583hg19UCSC Ensembl
Outerchr1:235298399..235298614hg19UCSC Ensembl
Cytoband1q42.3
Allele length
AssemblyAllele length
hg38216
hg19216
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9747491
Samples
Known GenesRBM34
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3548744
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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