A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8676671



Internal ID13701726
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 StatusS
Merged Variantsesv3398025
Supporting Variants
SamplesNA12891
Known GenesCTTNBP2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8676671
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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