A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3435549



Internal ID14935817
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr6:33657897..33659795hg38UCSC Ensembl
Innerchr6:33658795..33658897hg38UCSC Ensembl
Outerchr6:33656897..33660795hg38UCSC Ensembl
chr6:33625674..33627572hg19UCSC Ensembl
Innerchr6:33626572..33626674hg19UCSC Ensembl
Outerchr6:33624674..33628572hg19UCSC Ensembl
chr6:33733652..33735550hg18UCSC Ensembl
Innerchr6:33734652..33734550hg18UCSC Ensembl
Outerchr6:33732652..33736550hg18UCSC Ensembl
Cytoband6p21.31
Allele length
AssemblyAllele length
hg381899
hg191899
hg181899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695273
SamplesNA19239
Known GenesITPR3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3435549
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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