A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8691990



Internal ID15065521
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:154773652..154774950hg38UCSC Ensembl
Innerchr1:154773950..154774652hg38UCSC Ensembl
Outerchr1:154772652..154775950hg38UCSC Ensembl
chr1:154746128..154747426hg19UCSC Ensembl
Innerchr1:154746426..154747128hg19UCSC Ensembl
Outerchr1:154745128..154748426hg19UCSC Ensembl
chr1:153012752..153014050hg18UCSC Ensembl
Innerchr1:153013752..153013050hg18UCSC Ensembl
Outerchr1:153011752..153015050hg18UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3362664
Supporting Variants
SamplesNA19239
Known GenesKCNN3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8691990
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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