A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9762540



Internal ID18736786
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:70778865..70783817hg38UCSC Ensembl
Outerchr1:70778318..70784317hg38UCSC Ensembl
Innerchr1:71244548..71249500hg19UCSC Ensembl
Outerchr1:71244001..71250000hg19UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg386000
hg196000
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3563793
Supporting Variants
Samples
Known Genes
MethodSequencing
Analysis
PlatformIllumina HiSeq 2000
Comments
ReferenceBoomsma_et_al_2014
Pubmed ID23714750
Accession Number(s)essv9762540
Frequency
Sample Size767
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer