A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13115664



Internal ID3679039
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:14044616..14186950hg38UCSC Ensembl
chr8:13902125..14044459hg19UCSC Ensembl
Cytoband8p22
Allele length
AssemblyAllele length
hg38142335
hg19142335
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616353
Supporting Variants
SamplesHG03280
Known GenesSGCZ
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13115664
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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