A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3409657



Internal ID14909931
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:26536274..26539372hg38UCSC Ensembl
Innerchr1:26537274..26538372hg38UCSC Ensembl
Outerchr1:26535274..26540372hg38UCSC Ensembl
chr1:26862765..26865863hg19UCSC Ensembl
Innerchr1:26863765..26864863hg19UCSC Ensembl
Outerchr1:26861765..26866863hg19UCSC Ensembl
chr1:26735352..26738450hg18UCSC Ensembl
Innerchr1:26736352..26737450hg18UCSC Ensembl
Outerchr1:26734352..26739450hg18UCSC Ensembl
Cytoband1p36.11
Allele length
AssemblyAllele length
hg383099
hg193099
hg183099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692260
SamplesNA19239
Known GenesRPS6KA1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3409657
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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