A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688113



Internal ID15078426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:49253501..49255199hg38UCSC Ensembl
Innerchr10:49254199..49254501hg38UCSC Ensembl
Outerchr10:49252501..49256199hg38UCSC Ensembl
chr10:50461546..50463244hg19UCSC Ensembl
Innerchr10:50462244..50462546hg19UCSC Ensembl
Outerchr10:50460546..50464244hg19UCSC Ensembl
chr10:50131552..50133250hg18UCSC Ensembl
Innerchr10:50132552..50132250hg18UCSC Ensembl
Outerchr10:50130552..50134250hg18UCSC Ensembl
Cytoband10q11.23
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3398622
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688113
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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