A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603885



Internal ID6644139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:4950572..5420916hg38UCSC Ensembl
chr5:4950685..5421029hg19UCSC Ensembl
Cytoband5p15.32
Allele length
AssemblyAllele length
hg38470345
hg19470345
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11794582
SamplesHG00117
Known GenesADAMTS16, LINC01020
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603885
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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