A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14215352



Internal ID4217168
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:78524451..78661281hg38UCSC Ensembl
chr11:78235497..78372326hg19UCSC Ensembl
Cytoband11q14.1
Allele length
AssemblyAllele length
hg38136831
hg19136830
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626902
Supporting Variants
SamplesNA20888
Known GenesNARS2, TENM4
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14215352
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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