A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8695288



Internal ID13699508
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:35792197..35798995hg38UCSC Ensembl
Innerchr6:35793197..35797995hg38UCSC Ensembl
Outerchr6:35791197..35799995hg38UCSC Ensembl
chr6:35759974..35766772hg19UCSC Ensembl
Innerchr6:35760974..35765772hg19UCSC Ensembl
Outerchr6:35758974..35767772hg19UCSC Ensembl
chr6:35867952..35874750hg18UCSC Ensembl
Innerchr6:35868952..35873750hg18UCSC Ensembl
Outerchr6:35866952..35875750hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg386799
hg196799
hg186799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3345359
Supporting Variants
SamplesNA12891
Known GenesCLPS
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8695288
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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