A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv332e214



Internal ID20121755
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr13:45762455..45882541hg38UCSC Ensembl
chr13:46336590..46456676hg19UCSC Ensembl
Cytoband13q14.13
Allele length
AssemblyAllele length
hg38120087
hg19120087
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3631970, esv3631968
SamplesHG01052, HG01070, HG01259
Known GenesSIAH3
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv332e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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