A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3563660



Internal ID7036420
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv993161
Supporting Variants
SamplesHuRef
Known GenesCCDC127
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3563660
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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