A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3422773



Internal ID14923045
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:57939215..57943013hg38UCSC Ensembl
Innerchr6:57940215..57942013hg38UCSC Ensembl
Outerchr6:57938215..57944013hg38UCSC Ensembl
chr6:58265493..58269291hg19UCSC Ensembl
Innerchr6:58266493..58268291hg19UCSC Ensembl
Outerchr6:58264493..58270291hg19UCSC Ensembl
chr6:58373452..58377250hg18UCSC Ensembl
Innerchr6:58374452..58376250hg18UCSC Ensembl
Outerchr6:58372452..58378250hg18UCSC Ensembl
Cytoband6p11.2
Allele length
AssemblyAllele length
hg383799
hg193799
hg183799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695326
SamplesNA12878
Known GenesGUSBP4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3422773
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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