A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7737285



Internal ID13092855
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr1:205603621..205603622hg38UCSC Ensembl
Outerchr1:205603463..205603780hg38UCSC Ensembl
Innerchr1:205572749..205572750hg19UCSC Ensembl
Outerchr1:205572591..205572908hg19UCSC Ensembl
Innerchr1:203839373..203839372hg18UCSC Ensembl
Outerchr1:203839214..203839531hg18UCSC Ensembl
Cytoband1q32.1
Allele length
AssemblyAllele length
hg38318
hg19318
hg18318
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3302739
Supporting Variants
SamplesNA12287
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7737285
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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