A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1372e214



Internal ID20122795
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:9149682..9376889hg38UCSC Ensembl
chr8:9007192..9234399hg19UCSC Ensembl
Cytoband8p23.1
Allele length
AssemblyAllele length
hg38227208
hg19227208
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3616166, esv3616169
SamplesNA20761, HG02274
Known GenesLOC157273, PPP1R3B
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1372e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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