A curated catalogue of human genomic structural variation




Variant Details

Variant: esv993161



Internal ID7078494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:210498..218180hg38UCSC Ensembl
Outerchr5:210613..218295hg19UCSC Ensembl
Outerchr5:263613..271295hg18UCSC Ensembl
Cytoband5p15.33
Allele length
AssemblyAllele length
hg387683
hg197683
hg187683
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563660
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv993161
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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