A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688058



Internal ID14693339
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46399419..46597271hg38UCSC Ensembl
Innerchr10:46400419..46596271hg38UCSC Ensembl
Outerchr10:46398418..46598271hg38UCSC Ensembl
chr10:46952346..47150344hg19UCSC Ensembl
Innerchr10:46953346..47149344hg19UCSC Ensembl
Outerchr10:46951346..47151344hg19UCSC Ensembl
chr10:46372352..46570350hg18UCSC Ensembl
Innerchr10:46373352..46569350hg18UCSC Ensembl
Outerchr10:46371352..46571350hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg38197853
hg19197999
hg18197999
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3343580
Supporting Variants
SamplesNA19239
Known GenesGPRIN2, HNRNPA1P33, LINC00842, LOC100996758, NPY4R, SYT15
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688058
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