A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7124247



Internal ID10402529
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr19:43679208..43679796hg38UCSC Ensembl
Outerchr19:44183360..44183948hg19UCSC Ensembl
Cytoband19q13.31
Allele length
AssemblyAllele length
hg38589
hg19589
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2854680
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformComplete Genomics
Comments
ReferencePang_et_al_2013b
Pubmed ID24192839
Accession Number(s)essv7124247
Frequency
Sample Size1
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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