A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8687921



Internal ID14729484
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:12774947..12776345hg38UCSC Ensembl
Innerchr10:12775345..12775947hg38UCSC Ensembl
Outerchr10:12773947..12777345hg38UCSC Ensembl
chr10:12816946..12818344hg19UCSC Ensembl
Innerchr10:12817344..12817946hg19UCSC Ensembl
Outerchr10:12815946..12819344hg19UCSC Ensembl
chr10:12856952..12858350hg18UCSC Ensembl
Innerchr10:12857952..12857350hg18UCSC Ensembl
Outerchr10:12855952..12859350hg18UCSC Ensembl
Cytoband10p13
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3450539
Supporting Variants
SamplesNA19240
Known GenesCAMK1D
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8687921
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