A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3573565



Internal ID7044947
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:121311494..121311610hg38UCSC Ensembl
chr4:122232649..122232765hg19UCSC Ensembl
chr4:122452099..122452215hg18UCSC Ensembl
Cytoband4q27
Allele length
AssemblyAllele length
hg38117
hg19117
hg18117
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv990432
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3573565
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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