A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1404e214



Internal ID20122827
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:70376578..70381307hg38UCSC Ensembl
chr8:71288813..71293542hg19UCSC Ensembl
Cytoband8q13.3
Allele length
AssemblyAllele length
hg384730
hg194730
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3617564, esv3617563
SamplesHG02284, HG03295, HG03109, HG02947, HG03557
Known GenesNCOA2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1404e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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