A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3387297



Internal ID15234266
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:162777746..162777794hg38UCSC Ensembl
Innerchr1:162777737..162777801hg38UCSC Ensembl
Outerchr1:162777691..162777849hg38UCSC Ensembl
chr1:162747536..162747584hg19UCSC Ensembl
Innerchr1:162747527..162747591hg19UCSC Ensembl
Outerchr1:162747481..162747639hg19UCSC Ensembl
chr1:161014160..161014208hg18UCSC Ensembl
Innerchr1:161014215..161014151hg18UCSC Ensembl
Outerchr1:161014105..161014263hg18UCSC Ensembl
Cytoband1q23.3
Allele length
AssemblyAllele length
hg38131
hg19131
hg18131
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8901480, essv8901483, essv8901487, essv8901485, essv8901484, essv8901478, essv8901486, essv8901482, essv8901479
SamplesNA18507, NA12287, NA18498, NA18949, NA12156, NA18956, NA18858, NA19108, NA18952
Known GenesDDR2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3387297
Frequency
Sample Size185
Observed Gain9
Observed Loss0
Observed Complex0
Frequencyn/a


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