A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9763784



Internal ID18738030
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:83339082..83350317hg38UCSC Ensembl
Outerchr1:83338318..83351317hg38UCSC Ensembl
Innerchr1:83804765..83816000hg19UCSC Ensembl
Outerchr1:83804001..83817000hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg3813000
hg1913000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3565037
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9763784
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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