A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7863800



Internal ID13316242
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:197697086..197697100hg38UCSC Ensembl
Innerchr1:197697061..197697125hg38UCSC Ensembl
Outerchr1:197697047..197697139hg38UCSC Ensembl
chr1:197666216..197666230hg19UCSC Ensembl
Innerchr1:197666191..197666255hg19UCSC Ensembl
Outerchr1:197666177..197666269hg19UCSC Ensembl
chr1:195932839..195932853hg18UCSC Ensembl
Innerchr1:195932878..195932814hg18UCSC Ensembl
Outerchr1:195932800..195932892hg18UCSC Ensembl
Cytoband1q31.3
Allele length
AssemblyAllele length
hg3851
hg1951
hg1851
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3334717
Supporting Variants
SamplesNA12005
Known GenesDENND1B
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7863800
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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