A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3329522



Internal ID14829799
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:85199706..85199726hg38UCSC Ensembl
Innerchr1:85199708..85199724hg38UCSC Ensembl
Outerchr1:85199704..85199728hg38UCSC Ensembl
chr1:85665389..85665409hg19UCSC Ensembl
Innerchr1:85665391..85665407hg19UCSC Ensembl
Outerchr1:85665387..85665411hg19UCSC Ensembl
chr1:85437977..85437997hg18UCSC Ensembl
Innerchr1:85437979..85437995hg18UCSC Ensembl
Outerchr1:85437975..85437999hg18UCSC Ensembl
Cytoband1p22.3
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863722
SamplesNA18871
Known GenesSYDE2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3329522
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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