A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9744413



Internal ID18371973
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:207520920..207681392hg38UCSC Ensembl
Outerchr1:207509399..207692876hg38UCSC Ensembl
Innerchr1:207694265..207854737hg19UCSC Ensembl
Outerchr1:207682744..207866221hg19UCSC Ensembl
Cytoband1q32.2
Allele length
AssemblyAllele length
hg38183478
hg19183478
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3545666
Supporting Variants
Samples
Known GenesCR1, CR1L
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9744413
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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