A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570345



Internal ID6695041
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr21:10445412..10445415hg38UCSC Ensembl
chr21:11067042..11067045hg19UCSC Ensembl
chr21:10088913..10088916hg18UCSC Ensembl
Cytoband21p11.1
Allele length
AssemblyAllele length
hg3862
hg1962
hg1862
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001067
Supporting Variants
SamplesHuRef
Known GenesBAGE, BAGE2, BAGE3, BAGE4, BAGE5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570345
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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