A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448851



Internal ID15295800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:102255384..102255398hg38UCSC Ensembl
Innerchr7:102255359..102255423hg38UCSC Ensembl
Outerchr7:102255345..102255437hg38UCSC Ensembl
chr7:101898664..101898678hg19UCSC Ensembl
Innerchr7:101898639..101898703hg19UCSC Ensembl
Outerchr7:101898625..101898717hg19UCSC Ensembl
chr7:101685384..101685398hg18UCSC Ensembl
Innerchr7:101685423..101685359hg18UCSC Ensembl
Outerchr7:101685345..101685437hg18UCSC Ensembl
Cytoband7q22.1
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7864751
SamplesNA12005
Known GenesCUX1
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448851
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