A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3364099



Internal ID15211077
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:158050361..158050361hg38UCSC Ensembl
Innerchr1:158050360..158050362hg38UCSC Ensembl
Outerchr1:158050311..158050411hg38UCSC Ensembl
chr1:158020151..158020151hg19UCSC Ensembl
Innerchr1:158020150..158020152hg19UCSC Ensembl
Outerchr1:158020101..158020201hg19UCSC Ensembl
chr1:156286775..156286775hg18UCSC Ensembl
Innerchr1:156286776..156286774hg18UCSC Ensembl
Outerchr1:156286725..156286825hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38181
hg19181
hg18181
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8701357
SamplesNA12878
Known GenesKIRREL
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3364099
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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