A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3346260



Internal ID14846527
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:92305567..92305593hg38UCSC Ensembl
Innerchr1:92305529..92305631hg38UCSC Ensembl
Outerchr1:92305503..92305657hg38UCSC Ensembl
chr1:92771124..92771150hg19UCSC Ensembl
Innerchr1:92771086..92771188hg19UCSC Ensembl
Outerchr1:92771060..92771214hg19UCSC Ensembl
chr1:92543712..92543738hg18UCSC Ensembl
Innerchr1:92543776..92543674hg18UCSC Ensembl
Outerchr1:92543648..92543802hg18UCSC Ensembl
Cytoband1p22.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863728
SamplesNA18871
Known GenesRPAP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3346260
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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