A curated catalogue of human genomic structural variation




Variant Details

Variant: essv14118992



Internal ID4120808
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:46392885..46412875hg38UCSC Ensembl
chr11:46414435..46434425hg19UCSC Ensembl
Cytoband11p11.2
Allele length
AssemblyAllele length
hg3819991
hg1919991
Variant TypeCNV loss
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3626186
Supporting Variants
SamplesNA20504
Known GenesAMBRA1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv14118992
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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