A curated catalogue of human genomic structural variation




Variant Details

Variant: esv987683



Internal ID7075181
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 Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565240
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv987683
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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