A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3398025



Internal ID15244988
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:117716159..117716202hg38UCSC Ensembl
Innerchr7:117716165..117716196hg38UCSC Ensembl
Outerchr7:117716122..117716239hg38UCSC Ensembl
chr7:117356213..117356256hg19UCSC Ensembl
Innerchr7:117356219..117356250hg19UCSC Ensembl
Outerchr7:117356176..117356293hg19UCSC Ensembl
chr7:117143449..117143492hg18UCSC Ensembl
Innerchr7:117143486..117143455hg18UCSC Ensembl
Outerchr7:117143412..117143529hg18UCSC Ensembl
Cytoband7q31.2
Allele length
AssemblyAllele length
hg38261
hg19261
hg18261
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8676671, essv8676669, essv8676670
SamplesNA12891, NA19238, NA12892
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3398025
Frequency
Sample Size185
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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