A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688121



Internal ID15078554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:5497089..5498387hg38UCSC Ensembl
Innerchr10:5497387..5498089hg38UCSC Ensembl
Outerchr10:5496089..5499387hg38UCSC Ensembl
chr10:5539052..5540350hg19UCSC Ensembl
Innerchr10:5539350..5540052hg19UCSC Ensembl
Outerchr10:5538052..5541350hg19UCSC Ensembl
chr10:5529052..5530350hg18UCSC Ensembl
Innerchr10:5530052..5529350hg18UCSC Ensembl
Outerchr10:5528052..5531350hg18UCSC Ensembl
Cytoband10p15.1
Allele length
AssemblyAllele length
hg381299
hg191299
hg181299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3363753
Supporting Variants
SamplesNA19240
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688121
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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