A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604077



Internal ID6644330
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:13816838..14092620hg38UCSC Ensembl
chr5:13816947..14092729hg19UCSC Ensembl
Cytoband5p15.2
Allele length
AssemblyAllele length
hg38275783
hg19275783
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv1074e214
Supporting Variantsessv11818075
SamplesHG03175
Known GenesDNAH5
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604077
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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