A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14223348



Internal ID4225164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:86660723..87045565hg38UCSC Ensembl
chr11:86371765..86756607hg19UCSC Ensembl
Cytoband11q14.2
Allele length
AssemblyAllele length
hg38384843
hg19384843
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627099
Supporting Variants
SamplesHG02085
Known GenesFZD4, LOC100506368, ME3, OR7E2P, PRSS23, TMEM135
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14223348
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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