A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740689



Internal ID15082534
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:126501862..126501862hg38UCSC Ensembl
Innerchr10:126501861..126501863hg38UCSC Ensembl
Outerchr10:126501812..126501912hg38UCSC Ensembl
chr10:128190431..128190431hg19UCSC Ensembl
Innerchr10:128190430..128190432hg19UCSC Ensembl
Outerchr10:128190381..128190481hg19UCSC Ensembl
chr10:128180421..128180421hg18UCSC Ensembl
Innerchr10:128180422..128180420hg18UCSC Ensembl
Outerchr10:128180371..128180471hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg38704
hg19704
hg18704
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3323965
Supporting Variants
SamplesNA19240
Known GenesC10orf90
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740689
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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