A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3556343



Internal ID18757419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:1884772..1885642hg38UCSC Ensembl
Outerchr1:1884764..1885660hg38UCSC Ensembl
Innerchr1:1816211..1817081hg19UCSC Ensembl
Outerchr1:1816203..1817099hg19UCSC Ensembl
Cytoband1p36.33
Allele length
AssemblyAllele length
hg38897
hg19897
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9755090
Samples
Known GenesGNB1
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)esv3556343
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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