A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688122



Internal ID15040677
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5497089..5498487hg38UCSC Ensembl
Innerchr10:5497487..5498089hg38UCSC Ensembl
Outerchr10:5496089..5499487hg38UCSC Ensembl
chr10:5539052..5540450hg19UCSC Ensembl
Innerchr10:5539450..5540052hg19UCSC Ensembl
Outerchr10:5538052..5541450hg19UCSC Ensembl
chr10:5529052..5530450hg18UCSC Ensembl
Innerchr10:5530052..5529450hg18UCSC Ensembl
Outerchr10:5528052..5531450hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3336078
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688122
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer