A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001907



Internal ID7067025
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:185520481..185522918hg38UCSC Ensembl
chr4:186441635..186444072hg19UCSC Ensembl
chr4:186678629..186681066hg18UCSC Ensembl
Cytoband4q35.1
Allele length
AssemblyAllele length
hg382438
hg192438
hg182438
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv134e180
Supporting Variantsessv3567240
SamplesHuRef
Known GenesPDLIM3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001907
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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