A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3412866



Internal ID15259825
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128060106..128060118hg38UCSC Ensembl
Innerchr10:128060090..128060134hg38UCSC Ensembl
Outerchr10:128060078..128060146hg38UCSC Ensembl
chr10:129858370..129858382hg19UCSC Ensembl
Innerchr10:129858354..129858398hg19UCSC Ensembl
Outerchr10:129858342..129858410hg19UCSC Ensembl
chr10:129748360..129748372hg18UCSC Ensembl
Innerchr10:129748388..129748344hg18UCSC Ensembl
Outerchr10:129748332..129748400hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7865424, essv7865423
SamplesNA11992, NA19172
Known GenesPTPRE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3412866
Frequency
Sample Size185
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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