A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3577323



Internal ID7048705
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:99101898..99102232hg38UCSC Ensembl
chr4:100023049..100023383hg19UCSC Ensembl
chr4:100242072..100242406hg18UCSC Ensembl
Cytoband4q23
Allele length
AssemblyAllele length
hg38335
hg19335
hg18335
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010884
Supporting Variants
SamplesHuRef
Known GenesLOC100507053
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3577323
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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