A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8653046



Internal ID15063577
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:118532005..118532005hg38UCSC Ensembl
Innerchr11:118532004..118532006hg38UCSC Ensembl
Outerchr11:118531955..118532055hg38UCSC Ensembl
chr11:118402720..118402720hg19UCSC Ensembl
Innerchr11:118402719..118402721hg19UCSC Ensembl
Outerchr11:118402670..118402770hg19UCSC Ensembl
chr11:117907930..117907930hg18UCSC Ensembl
Innerchr11:117907931..117907929hg18UCSC Ensembl
Outerchr11:117907880..117907980hg18UCSC Ensembl
Cytoband11q23.3
Allele length
AssemblyAllele length
hg38103
hg19103
hg18103
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3359887
Supporting Variants
SamplesNA19239
Known GenesTMEM25
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8653046
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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