A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688371



Internal ID15011533
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47355725..47357423hg38UCSC Ensembl
Innerchr11:47356423..47356725hg38UCSC Ensembl
Outerchr11:47354725..47358423hg38UCSC Ensembl
chr11:47377276..47378974hg19UCSC Ensembl
Innerchr11:47377974..47378276hg19UCSC Ensembl
Outerchr11:47376276..47379974hg19UCSC Ensembl
chr11:47333852..47335550hg18UCSC Ensembl
Innerchr11:47334852..47334550hg18UCSC Ensembl
Outerchr11:47332852..47336550hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381699
hg191699
hg181699
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3380389
Supporting Variants
SamplesNA19238
Known GenesSPI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688371
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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