A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3607780



Internal ID6994711
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:180435232..180461998hg38UCSC Ensembl
chr5:179862232..179888998hg19UCSC Ensembl
Cytoband5q35.3
Allele length
AssemblyAllele length
hg3826767
hg1926767
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv12152929, essv12152928
SamplesNA19920, NA18562
Known Genes
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3607780
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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