A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3373434



Internal ID15220409
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:28973616..28973634hg38UCSC Ensembl
Innerchr7:28973613..28973634hg38UCSC Ensembl
Outerchr7:28973595..28973655hg38UCSC Ensembl
chr7:29013232..29013250hg19UCSC Ensembl
Innerchr7:29013229..29013250hg19UCSC Ensembl
Outerchr7:29013211..29013271hg19UCSC Ensembl
chr7:28979757..28979775hg18UCSC Ensembl
Innerchr7:28979775..28979754hg18UCSC Ensembl
Outerchr7:28979736..28979796hg18UCSC Ensembl
Cytoband7p14.3
Allele length
AssemblyAllele length
hg38278
hg19278
hg18278
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8935079, essv8935070, essv8935071, essv8935077, essv8935074, essv8935078, essv8935076, essv8935073, essv8935075, essv8935072
SamplesNA18870, NA18510, NA18916, NA19138, NA19172, NA18871, NA19257, NA19225, NA18858, NA18517
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3373434
Frequency
Sample Size185
Observed Gain10
Observed Loss0
Observed Complex0
Frequencyn/a


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