A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688101



Internal ID14693729
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46250610..46252808hg38UCSC Ensembl
Innerchr10:46251610..46251808hg38UCSC Ensembl
Outerchr10:46249610..46253808hg38UCSC Ensembl
chr10:47621846..47624044hg19UCSC Ensembl
Innerchr10:47622846..47623044hg19UCSC Ensembl
Outerchr10:47620846..47625044hg19UCSC Ensembl
chr10:47091852..47094050hg18UCSC Ensembl
Innerchr10:47092852..47093050hg18UCSC Ensembl
Outerchr10:47090852..47095050hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg382199
hg192199
hg182199
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3388409
Supporting Variants
SamplesNA19239
Known GenesANTXRLP1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688101
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