A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865424



Internal ID13229010
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 StatusS
Merged Variantsesv3412866
Supporting Variants
SamplesNA11992
Known GenesPTPRE
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865424
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer