A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8740721



Internal ID14736228
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:128985987..128985987hg38UCSC Ensembl
Innerchr11:128985986..128985988hg38UCSC Ensembl
Outerchr11:128985937..128986037hg38UCSC Ensembl
chr11:128855882..128855882hg19UCSC Ensembl
Innerchr11:128855881..128855883hg19UCSC Ensembl
Outerchr11:128855832..128855932hg19UCSC Ensembl
chr11:128361092..128361092hg18UCSC Ensembl
Innerchr11:128361093..128361091hg18UCSC Ensembl
Outerchr11:128361042..128361142hg18UCSC Ensembl
Cytoband11q24.3
Allele length
AssemblyAllele length
hg382366
hg192366
hg182366
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3447576
Supporting Variants
SamplesNA19240
Known GenesARHGAP32
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8740721
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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