A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3335215



Internal ID15182205
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:27831209..27831219hg38UCSC Ensembl
Innerchr2:27831201..27831227hg38UCSC Ensembl
Outerchr2:27831188..27831237hg38UCSC Ensembl
chr2:28054076..28054086hg19UCSC Ensembl
Innerchr2:28054068..28054094hg19UCSC Ensembl
Outerchr2:28054055..28054104hg19UCSC Ensembl
chr2:27907580..27907590hg18UCSC Ensembl
Innerchr2:27907598..27907572hg18UCSC Ensembl
Outerchr2:27907559..27907608hg18UCSC Ensembl
Cytoband2p23.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8674733, essv8674736, essv8674735, essv8674734, essv8674737
SamplesNA12891, NA19238, NA19239, NA12878, NA19240
Known GenesRBKS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3335215
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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