A curated catalogue of human genomic structural variation




Variant Details

Variant: essv13074955



Internal ID5556247
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:4950388..5202725hg38UCSC Ensembl
chr8:4807910..5060247hg19UCSC Ensembl
Cytoband8p23.2
Allele length
AssemblyAllele length
hg38252338
hg19252338
Variant TypeCNV gain
Copy Number
Allele StateHeterozygous
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3616015
Supporting Variants
SamplesNA19007
Known GenesCSMD1
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)essv13074955
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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