A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695069



Internal ID15050541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:158852032..158853630hg38UCSC Ensembl
Innerchr6:158852630..158853032hg38UCSC Ensembl
Outerchr6:158851032..158854630hg38UCSC Ensembl
chr6:159273064..159274662hg19UCSC Ensembl
Innerchr6:159273662..159274064hg19UCSC Ensembl
Outerchr6:159272064..159275662hg19UCSC Ensembl
chr6:159193052..159194650hg18UCSC Ensembl
Innerchr6:159194052..159193650hg18UCSC Ensembl
Outerchr6:159192052..159195650hg18UCSC Ensembl
Cytoband6q25.3
Allele length
AssemblyAllele length
hg381599
hg191599
hg181599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3327787
Supporting Variants
SamplesNA19239
Known GenesOSTCP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695069
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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