A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3604897



Internal ID6645147
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:43343819..43405322hg38UCSC Ensembl
Innerchr5:43343969..43405172hg38UCSC Ensembl
Outerchr5:43343669..43405472hg38UCSC Ensembl
chr5:43343921..43405424hg19UCSC Ensembl
Innerchr5:43344071..43405274hg19UCSC Ensembl
Outerchr5:43343771..43405574hg19UCSC Ensembl
Cytoband5p12
Allele length
AssemblyAllele length
hg3861504
hg1961504
Variant TypeCNV gain
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv11884408
SamplesNA12717
Known GenesCCL28
MethodSequencing
Analysis
PlatformMultiple platforms
Comments
Reference1000_Genomes_Consortium_Phase_3
Pubmed ID21293372
Accession Number(s)esv3604897
Frequency
Sample Size2504
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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