A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8674737



Internal ID15008761
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 StatusS
Merged Variantsesv3335215
Supporting Variants
SamplesNA19238
Known GenesRBKS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8674737
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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