A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9745325



Internal ID18372885
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:216058166..216058650hg38UCSC Ensembl
Outerchr1:216058103..216058713hg38UCSC Ensembl
Innerchr1:216231508..216231992hg19UCSC Ensembl
Outerchr1:216231445..216232055hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38611
hg19611
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3546578
Supporting Variants
Samples
Known GenesUSH2A
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9745325
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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