A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604831



Internal ID6991859
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:40902810..40933713hg38UCSC Ensembl
chr5:40902912..40933815hg19UCSC Ensembl
Cytoband5p13.1
Allele length
AssemblyAllele length
hg3830904
hg1930904
Variant TypeCNV loss
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11879600
SamplesNA18566
Known GenesC7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604831
Frequency
Sample Size2504
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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