A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8688084



Internal ID13632710
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr10:46458507..46476811hg38UCSC Ensembl
Innerchr10:46459503..46475811hg38UCSC Ensembl
Outerchr10:46457513..46477811hg38UCSC Ensembl
chr10:47072646..47091244hg19UCSC Ensembl
Innerchr10:47073646..47090244hg19UCSC Ensembl
Outerchr10:47071646..47092244hg19UCSC Ensembl
chr10:46492652..46511250hg18UCSC Ensembl
Innerchr10:46493652..46510250hg18UCSC Ensembl
Outerchr10:46491652..46512250hg18UCSC Ensembl
Cytoband10q11.22
Allele length
AssemblyAllele length
hg3818305
hg1918599
hg1818599
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3334625
Supporting Variants
SamplesNA12878
Known GenesLOC100996758, NPY4R
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8688084
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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