A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002030



Internal ID7067148
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:144390325..144401028hg38UCSC Ensembl
Outerchr4:145311477..145322180hg19UCSC Ensembl
Outerchr4:145530927..145541630hg18UCSC Ensembl
Cytoband4q31.21
Allele length
AssemblyAllele length
hg3810704
hg1910704
hg1810704
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563767
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002030
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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