A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13260831



Internal ID3262647
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:94643567..94666158hg38UCSC Ensembl
chr8:95655795..95678386hg19UCSC Ensembl
Cytoband8q22.1
Allele length
AssemblyAllele length
hg3822592
hg1922592
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3618085
Supporting Variants
SamplesHG02808
Known GenesESRP1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13260831
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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