A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863829



Internal ID13316284
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:230683735..230683745hg38UCSC Ensembl
Innerchr1:230683737..230683743hg38UCSC Ensembl
Outerchr1:230683733..230683747hg38UCSC Ensembl
chr1:230819481..230819491hg19UCSC Ensembl
Innerchr1:230819483..230819489hg19UCSC Ensembl
Outerchr1:230819479..230819493hg19UCSC Ensembl
chr1:228886104..228886114hg18UCSC Ensembl
Innerchr1:228886106..228886112hg18UCSC Ensembl
Outerchr1:228886102..228886116hg18UCSC Ensembl
Cytoband1q42.2
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444074
Supporting Variants
SamplesNA12005
Known GenesCOG2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863829
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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