A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8692379



Internal ID15111645
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:5664605..5676503hg38UCSC Ensembl
Innerchr1:5665605..5675503hg38UCSC Ensembl
Outerchr1:5663605..5677503hg38UCSC Ensembl
chr1:5724665..5736563hg19UCSC Ensembl
Innerchr1:5725665..5735563hg19UCSC Ensembl
Outerchr1:5723665..5737563hg19UCSC Ensembl
chr1:5647252..5659150hg18UCSC Ensembl
Innerchr1:5648252..5658150hg18UCSC Ensembl
Outerchr1:5646252..5660150hg18UCSC Ensembl
Cytoband1p36.31
Allele length
AssemblyAllele length
hg3811899
hg1911899
hg1811899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag0
Merged StatusS
Merged Variantsesv3345322
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8692379
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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