A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14241699



Internal ID1009352
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:94057446..94077376hg38UCSC Ensembl
chr11:93790612..93810542hg19UCSC Ensembl
Cytoband11q21
Allele length
AssemblyAllele length
hg3819931
hg1919931
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627306
Supporting Variants
SamplesHG00631
Known GenesHEPHL1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14241699
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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