A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3616719



Internal ID6656915
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27304061..27359840hg38UCSC Ensembl
chr8:27161578..27217357hg19UCSC Ensembl
Cytoband8p21.2
Allele length
AssemblyAllele length
hg3855780
hg1955780
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv13150571
SamplesHG03479
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3616719
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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