A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3360661



Internal ID15207640
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:17009388..17009410hg38UCSC Ensembl
Innerchr1:17009390..17009408hg38UCSC Ensembl
Outerchr1:17009386..17009412hg38UCSC Ensembl
chr1:17335883..17335905hg19UCSC Ensembl
Innerchr1:17335885..17335903hg19UCSC Ensembl
Outerchr1:17335881..17335907hg19UCSC Ensembl
chr1:17208470..17208492hg18UCSC Ensembl
Innerchr1:17208472..17208490hg18UCSC Ensembl
Outerchr1:17208468..17208494hg18UCSC Ensembl
Cytoband1p36.13
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7863677
SamplesNA12005
Known GenesATP13A2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3360661
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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