A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582806



Internal ID7054188
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10475721..10476287hg38UCSC Ensembl
chr21:11036170..11036736hg19UCSC Ensembl
chr21:10058041..10058607hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg38567
hg19567
hg18567
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv987944
Supporting Variants
SamplesHuRef
Known GenesBAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582806
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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