A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8698446



Internal ID13675494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:95095305..95095460hg38UCSC Ensembl
Innerchr11:95095365..95095391hg38UCSC Ensembl
Outerchr11:95095215..95095501hg38UCSC Ensembl
chr11:94828469..94828624hg19UCSC Ensembl
Innerchr11:94828529..94828555hg19UCSC Ensembl
Outerchr11:94828379..94828665hg19UCSC Ensembl
chr11:94468117..94468272hg18UCSC Ensembl
Innerchr11:94468177..94468203hg18UCSC Ensembl
Outerchr11:94468027..94468313hg18UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg38156
hg19156
hg18156
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3413248
Supporting Variants
SamplesNA12878
Known GenesENDOD1
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8698446
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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