A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688373



Internal ID15080810
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:47355725..47358623hg38UCSC Ensembl
Innerchr11:47356725..47357623hg38UCSC Ensembl
Outerchr11:47354725..47359623hg38UCSC Ensembl
chr11:47377276..47380174hg19UCSC Ensembl
Innerchr11:47378276..47379174hg19UCSC Ensembl
Outerchr11:47376276..47381174hg19UCSC Ensembl
chr11:47333852..47336750hg18UCSC Ensembl
Innerchr11:47334852..47335750hg18UCSC Ensembl
Outerchr11:47332852..47337750hg18UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg382899
hg192899
hg182899
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439899
Supporting Variants
SamplesNA19240
Known GenesSPI1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688373
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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