A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8952395



Internal ID13471922
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:36318484..36318502hg38UCSC Ensembl
Innerchr11:36318488..36318496hg38UCSC Ensembl
Outerchr11:36318470..36318516hg38UCSC Ensembl
chr11:36340034..36340052hg19UCSC Ensembl
Innerchr11:36340038..36340046hg19UCSC Ensembl
Outerchr11:36340020..36340066hg19UCSC Ensembl
chr11:36296610..36296628hg18UCSC Ensembl
Innerchr11:36296622..36296614hg18UCSC Ensembl
Outerchr11:36296596..36296642hg18UCSC Ensembl
Cytoband11p13
Allele length
AssemblyAllele length
hg38270
hg19270
hg18270
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3425565
Supporting Variants
SamplesNA12716
Known GenesPRR5L
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8952395
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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