A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7766597



Internal ID13258867
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:132776799..132776800hg38UCSC Ensembl
Innerchr6:132776777..132776822hg38UCSC Ensembl
Outerchr6:132776776..132776823hg38UCSC Ensembl
chr6:133097938..133097939hg19UCSC Ensembl
Innerchr6:133097916..133097961hg19UCSC Ensembl
Outerchr6:133097915..133097962hg19UCSC Ensembl
chr6:133139631..133139632hg18UCSC Ensembl
Innerchr6:133139654..133139609hg18UCSC Ensembl
Outerchr6:133139608..133139655hg18UCSC Ensembl
Cytoband6q23.2
Allele length
AssemblyAllele length
hg38703
hg19703
hg18703
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307672
Supporting Variants
SamplesNA12814
Known GenesSLC18B1
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7766597
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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