A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3342773



Internal ID15189758
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:211147267..211147277hg38UCSC Ensembl
Innerchr1:211147247..211147297hg38UCSC Ensembl
Outerchr1:211147237..211147307hg38UCSC Ensembl
chr1:211320609..211320619hg19UCSC Ensembl
Innerchr1:211320589..211320639hg19UCSC Ensembl
Outerchr1:211320579..211320649hg19UCSC Ensembl
chr1:209387232..209387242hg18UCSC Ensembl
Innerchr1:209387262..209387212hg18UCSC Ensembl
Outerchr1:209387202..209387272hg18UCSC Ensembl
Cytoband1q32.2
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 Variantsessv7863812
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3342773
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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