A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3639599



Internal ID7026378
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:89813127..89823660hg38UCSC Ensembl
chr16:89879535..89890068hg19UCSC Ensembl
Cytoband16q24.3
Allele length
AssemblyAllele length
hg3810534
hg1910534
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv15569863, essv15569864, essv15569871, essv15569868, essv15569862, essv15569861, essv15569870, essv15569869, essv15569866, essv15569867, essv15569865
SamplesHG03895, HG03069, HG02811, HG03460, HG02716, HG03900, HG03756, NA18499, HG03949, HG01770, HG00171
Known GenesFANCA
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3639599
Frequency
Sample Size2504
Observed Gain11
Observed Loss0
Observed Complex0
Frequencyn/a


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