A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7841605



Internal ID14736333
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:160291667..160291668hg38UCSC Ensembl
Innerchr1:160291651..160291684hg38UCSC Ensembl
Outerchr1:160291650..160291685hg38UCSC Ensembl
chr1:160261457..160261458hg19UCSC Ensembl
Innerchr1:160261441..160261474hg19UCSC Ensembl
Outerchr1:160261440..160261475hg19UCSC Ensembl
chr1:158528081..158528082hg18UCSC Ensembl
Innerchr1:158528098..158528065hg18UCSC Ensembl
Outerchr1:158528064..158528099hg18UCSC Ensembl
Cytoband1q23.2
Allele length
AssemblyAllele length
hg38208
hg19208
hg18208
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3308421
Supporting Variants
SamplesNA19240
Known GenesCOPA
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7841605
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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