A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695041



Internal ID15050209
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:135254221..135255219hg38UCSC Ensembl
Innerchr6:135254220..135255220hg38UCSC Ensembl
Outerchr6:135253221..135256219hg38UCSC Ensembl
chr6:135575359..135576357hg19UCSC Ensembl
Innerchr6:135575358..135576358hg19UCSC Ensembl
Outerchr6:135574359..135577357hg19UCSC Ensembl
chr6:135617052..135618050hg18UCSC Ensembl
Innerchr6:135618051..135617051hg18UCSC Ensembl
Outerchr6:135616052..135619050hg18UCSC Ensembl
Cytoband6q23.3
Allele length
AssemblyAllele length
hg38999
hg19999
hg18999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3366960
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695041
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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