A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688372



Internal ID15043067
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47355725..47357523hg38UCSC Ensembl
Innerchr11:47356523..47356725hg38UCSC Ensembl
Outerchr11:47354725..47358523hg38UCSC Ensembl
chr11:47377276..47379074hg19UCSC Ensembl
Innerchr11:47378074..47378276hg19UCSC Ensembl
Outerchr11:47376276..47380074hg19UCSC Ensembl
chr11:47333852..47335650hg18UCSC Ensembl
Innerchr11:47334852..47334650hg18UCSC Ensembl
Outerchr11:47332852..47336650hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg381799
hg191799
hg181799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3337151
Supporting Variants
SamplesNA19239
Known GenesSPI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688372
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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