A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13150571



Internal ID3152387
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 StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616719
Supporting Variants
SamplesHG03479
Known GenesPTK2B, TRIM35
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13150571
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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