A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688070



Internal ID13371123
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46541973..46556071hg38UCSC Ensembl
Innerchr10:46542973..46555071hg38UCSC Ensembl
Outerchr10:46540973..46557071hg38UCSC Ensembl
chr10:46993546..47007644hg19UCSC Ensembl
Innerchr10:46994546..47006644hg19UCSC Ensembl
Outerchr10:46992546..47008644hg19UCSC Ensembl
chr10:46413552..46427650hg18UCSC Ensembl
Innerchr10:46414552..46426650hg18UCSC Ensembl
Outerchr10:46412552..46428650hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3814099
hg1914099
hg1814099
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3336367
Supporting Variants
SamplesNA12892
Known GenesGPRIN2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688070
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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