A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7837716



Internal ID13720264
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:101304489..101304490hg38UCSC Ensembl
Innerchr1:101304444..101304535hg38UCSC Ensembl
Outerchr1:101304443..101304536hg38UCSC Ensembl
chr1:101770045..101770046hg19UCSC Ensembl
Innerchr1:101770000..101770091hg19UCSC Ensembl
Outerchr1:101769999..101770092hg19UCSC Ensembl
chr1:101542633..101542634hg18UCSC Ensembl
Innerchr1:101542679..101542588hg18UCSC Ensembl
Outerchr1:101542587..101542680hg18UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3310204
Supporting Variants
SamplesNA12892
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7837716
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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