A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7738695



Internal ID13847819
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Innerchr2:123833449..123833857hg38UCSC Ensembl
Outerchr2:123833249..123834057hg38UCSC Ensembl
Innerchr2:124591026..124591434hg19UCSC Ensembl
Outerchr2:124590826..124591634hg19UCSC Ensembl
Innerchr2:124307496..124307904hg18UCSC Ensembl
Outerchr2:124307296..124308104hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg38809
hg19809
hg18809
Variant TypeCNV tandem duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303093
Supporting Variants
SamplesNA18510
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7738695
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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