A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865000



Internal ID13317686
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:22375590..22375602hg38UCSC Ensembl
Innerchr10:22375592..22375600hg38UCSC Ensembl
Outerchr10:22375588..22375604hg38UCSC Ensembl
chr10:22664519..22664531hg19UCSC Ensembl
Innerchr10:22664521..22664529hg19UCSC Ensembl
Outerchr10:22664517..22664533hg19UCSC Ensembl
chr10:22704525..22704537hg18UCSC Ensembl
Innerchr10:22704527..22704535hg18UCSC Ensembl
Outerchr10:22704523..22704539hg18UCSC Ensembl
Cytoband10p12.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3426173
Supporting Variants
SamplesNA12005
Known GenesSPAG6
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865000
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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