A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14287967



Internal ID4289783
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:113100191..113111845hg38UCSC Ensembl
chr11:112970913..112982567hg19UCSC Ensembl
Cytoband11q23.2
Allele length
AssemblyAllele length
hg3811655
hg1911655
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3627773
Supporting Variants
SamplesHG01113
Known GenesNCAM1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14287967
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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