A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7865538



Internal ID13317912
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:129201645..129201689hg38UCSC Ensembl
Innerchr11:129201581..129201753hg38UCSC Ensembl
Outerchr11:129201537..129201797hg38UCSC Ensembl
chr11:129071540..129071584hg19UCSC Ensembl
Innerchr11:129071476..129071648hg19UCSC Ensembl
Outerchr11:129071432..129071692hg19UCSC Ensembl
chr11:128576750..128576794hg18UCSC Ensembl
Innerchr11:128576858..128576686hg18UCSC Ensembl
Outerchr11:128576642..128576902hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3438519
Supporting Variants
SamplesNA12005
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7865538
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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