A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3605459



Internal ID6992481
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:76135393..76162135hg38UCSC Ensembl
chr5:75431218..75457960hg19UCSC Ensembl
Cytoband5q13.3
Allele length
AssemblyAllele length
hg3826743
hg1926743
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1107e214
Supporting Variantsessv11946053, essv11946052, essv11946054
SamplesNA19678, NA20775, NA12154
Known GenesSV2C
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3605459
Frequency
Sample Size2504
Observed Gain3
Observed Loss0
Observed Complex0
Frequencyn/a


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