A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8671704



Internal ID15061631
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:128276993..128277089hg38UCSC Ensembl
Innerchr10:128277004..128277076hg38UCSC Ensembl
Outerchr10:128276908..128277174hg38UCSC Ensembl
chr10:130075257..130075353hg19UCSC Ensembl
Innerchr10:130075268..130075340hg19UCSC Ensembl
Outerchr10:130075172..130075438hg19UCSC Ensembl
chr10:129965247..129965343hg18UCSC Ensembl
Innerchr10:129965330..129965258hg18UCSC Ensembl
Outerchr10:129965162..129965428hg18UCSC Ensembl
Cytoband10q26.2
Allele length
AssemblyAllele length
hg3879
hg1979
hg1879
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3346515
Supporting Variants
SamplesNA19239
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8671704
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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