A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1417e214



Internal ID22757311
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:125296158..125317910hg38UCSC Ensembl
chr8:126308400..126330152hg19UCSC Ensembl
Cytoband8q24.13
Allele length
AssemblyAllele length
hg3821753
hg1921753
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv3618715, esv3618718
SamplesHG02355
Known GenesNSMCE2
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)dgv1417e214
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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