A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3565240



Internal ID7036622
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:57622934..57631735hg38UCSC Ensembl
Outerchr5:56918761..56927562hg19UCSC Ensembl
Outerchr5:56954518..56963319hg18UCSC Ensembl
Cytoband5q11.2
Allele length
AssemblyAllele length
hg388802
hg198802
hg188802
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987683
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3565240
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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