A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13992185



Internal ID3994001
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:1002638..1016158hg38UCSC Ensembl
chr11:1002638..1016158hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg3813521
hg1913521
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3625095
Supporting Variants
SamplesHG03830
Known GenesAP2A2, MUC6
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13992185
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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