A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14214014



Internal ID4215830
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:75224463..75334026hg38UCSC Ensembl
Innerchr11:75224613..75333876hg38UCSC Ensembl
Outerchr11:75224313..75334176hg38UCSC Ensembl
chr11:74935508..75045070hg19UCSC Ensembl
Innerchr11:74935658..75044920hg19UCSC Ensembl
Outerchr11:74935358..75045220hg19UCSC Ensembl
Cytoband11q13.4
Allele length
AssemblyAllele length
hg38109564
hg19109563
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626851
Supporting Variants
SamplesHG00141
Known GenesARRB1, TPBGL
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14214014
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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