A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3603792



Internal ID6644046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:1000756..1054628hg38UCSC Ensembl
chr5:1000871..1054743hg19UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg3853873
hg1953873
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11774084, essv11774083
SamplesHG00139, HG03978
Known GenesNKD2, SLC12A7
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3603792
Frequency
Sample Size2504
Observed Gain2
Observed Loss0
Observed Complex0
Frequencyn/a


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