A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8901033



Internal ID13982533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:111489660..111489670hg38UCSC Ensembl
Innerchr1:111489652..111489676hg38UCSC Ensembl
Outerchr1:111489642..111489688hg38UCSC Ensembl
chr1:112032282..112032292hg19UCSC Ensembl
Innerchr1:112032274..112032298hg19UCSC Ensembl
Outerchr1:112032264..112032310hg19UCSC Ensembl
chr1:111833805..111833815hg18UCSC Ensembl
Innerchr1:111833821..111833797hg18UCSC Ensembl
Outerchr1:111833787..111833833hg18UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg38288
hg19288
hg18288
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323849
Supporting Variants
SamplesNA18638
Known GenesADORA3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8901033
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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