A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3309055



Internal ID15156004
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90020569..90020570hg38UCSC Ensembl
Innerchr6:90020541..90020598hg38UCSC Ensembl
Outerchr6:90020540..90020599hg38UCSC Ensembl
chr6:90730288..90730289hg19UCSC Ensembl
Innerchr6:90730260..90730317hg19UCSC Ensembl
Outerchr6:90730259..90730318hg19UCSC Ensembl
chr6:90787009..90787010hg18UCSC Ensembl
Innerchr6:90787038..90786981hg18UCSC Ensembl
Outerchr6:90786980..90787039hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7838943, essv7837564
SamplesNA19238, NA19240
Known GenesBACH2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3309055
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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