A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7743414



Internal ID13021049
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:123371080..123371081hg38UCSC Ensembl
Innerchr11:123371055..123371106hg38UCSC Ensembl
Outerchr11:123371054..123371107hg38UCSC Ensembl
chr11:123241788..123241789hg19UCSC Ensembl
Innerchr11:123241763..123241814hg19UCSC Ensembl
Outerchr11:123241762..123241815hg19UCSC Ensembl
chr11:122746998..122746999hg18UCSC Ensembl
Innerchr11:122747024..122746973hg18UCSC Ensembl
Outerchr11:122746972..122747025hg18UCSC Ensembl
Cytoband11q24.1
Allele length
AssemblyAllele length
hg38222
hg19222
hg18222
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303455
Supporting Variants
SamplesNA07000
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7743414
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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