A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564075



Internal ID7035175
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr4:54935957..54942237hg38UCSC Ensembl
Outerchr4:55802123..55808403hg19UCSC Ensembl
Outerchr4:55496880..55503160hg18UCSC Ensembl
Cytoband4q12
Allele length
AssemblyAllele length
hg386281
hg196281
hg186281
Variant TypeCNV deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010982
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564075
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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