A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000704



Internal ID7065834
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:182831216..182834632hg38UCSC Ensembl
Outerchr4:183752369..183755785hg19UCSC Ensembl
Outerchr4:183989363..183992779hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg385033
hg195033
hg185033
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564696
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000704
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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