A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605458



Internal ID6992480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76134898..76154616hg38UCSC Ensembl
chr5:75430723..75450441hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3819719
hg1919719
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1107e214
Supporting Variantsessv11946050, essv11946051
SamplesNA20775, NA12154
Known GenesSV2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605458
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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