A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9654592



Internal ID13619548
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:127033269..127033288hg38UCSC Ensembl
Innerchr11:127033265..127033292hg38UCSC Ensembl
Outerchr11:127033246..127033311hg38UCSC Ensembl
chr11:126903164..126903183hg19UCSC Ensembl
Innerchr11:126903160..126903187hg19UCSC Ensembl
Outerchr11:126903141..126903206hg19UCSC Ensembl
chr11:126408374..126408393hg18UCSC Ensembl
Innerchr11:126408397..126408370hg18UCSC Ensembl
Outerchr11:126408351..126408416hg18UCSC Ensembl
Cytoband11q24.2
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3401959
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9654592
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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