A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688092



Internal ID13345072
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46400219..46416205hg38UCSC Ensembl
Innerchr10:46401219..46415203hg38UCSC Ensembl
Outerchr10:46399219..46417209hg38UCSC Ensembl
chr10:47133546..47149544hg19UCSC Ensembl
Innerchr10:47134546..47148544hg19UCSC Ensembl
Outerchr10:47132546..47150544hg19UCSC Ensembl
chr10:46553552..46569550hg18UCSC Ensembl
Innerchr10:46554552..46568550hg18UCSC Ensembl
Outerchr10:46552552..46570550hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3815987
hg1915999
hg1815999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3424470
Supporting Variants
SamplesNA12891
Known GenesHNRNPA1P33, LINC00842
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688092
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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