A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9629391



Internal ID13617332
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:90243268..90243287hg38UCSC Ensembl
Innerchr6:90243264..90243291hg38UCSC Ensembl
Outerchr6:90243245..90243310hg38UCSC Ensembl
chr6:90952987..90953006hg19UCSC Ensembl
Innerchr6:90952983..90953010hg19UCSC Ensembl
Outerchr6:90952964..90953029hg19UCSC Ensembl
chr6:91009708..91009727hg18UCSC Ensembl
Innerchr6:91009731..91009704hg18UCSC Ensembl
Outerchr6:91009685..91009750hg18UCSC Ensembl
Cytoband6q15
Allele length
AssemblyAllele length
hg386000
hg196000
hg186000
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3452003
Supporting Variants
SamplesNA12872
Known GenesBACH2
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9629391
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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