A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3413317



Internal ID15260276
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:37489898..37492196hg38UCSC Ensembl
Innerchr6:37490898..37491196hg38UCSC Ensembl
Outerchr6:37488898..37493196hg38UCSC Ensembl
chr6:37457674..37459972hg19UCSC Ensembl
Innerchr6:37458674..37458972hg19UCSC Ensembl
Outerchr6:37456674..37460972hg19UCSC Ensembl
chr6:37565652..37567950hg18UCSC Ensembl
Innerchr6:37566652..37566950hg18UCSC Ensembl
Outerchr6:37564652..37568950hg18UCSC Ensembl
Cytoband6p21.2
Allele length
AssemblyAllele length
hg382299
hg192299
hg182299
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695294
SamplesNA19239
Known GenesCCDC167
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3413317
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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