A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7778067



Internal ID14864236
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127071220..127071221hg38UCSC Ensembl
Innerchr11:127071202..127071239hg38UCSC Ensembl
Outerchr11:127071201..127071240hg38UCSC Ensembl
chr11:126941115..126941116hg19UCSC Ensembl
Innerchr11:126941097..126941134hg19UCSC Ensembl
Outerchr11:126941096..126941135hg19UCSC Ensembl
chr11:126446325..126446326hg18UCSC Ensembl
Innerchr11:126446344..126446307hg18UCSC Ensembl
Outerchr11:126446306..126446345hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38294
hg19294
hg18294
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306062
Supporting Variants
SamplesNA19114
Known Genes
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7778067
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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