A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3395242



Internal ID15242206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:135714764..135715562hg38UCSC Ensembl
Innerchr7:135714763..135715563hg38UCSC Ensembl
Outerchr7:135713764..135716562hg38UCSC Ensembl
chr7:135399512..135400310hg19UCSC Ensembl
Innerchr7:135399511..135400311hg19UCSC Ensembl
Outerchr7:135398512..135401310hg19UCSC Ensembl
chr7:135050052..135050850hg18UCSC Ensembl
Innerchr7:135050851..135050051hg18UCSC Ensembl
Outerchr7:135049052..135051850hg18UCSC Ensembl
Cytoband7q33
Allele length
AssemblyAllele length
hg38799
hg19799
hg18799
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8695524
SamplesNA19240
Known GenesSLC13A4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3395242
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