A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3571280



Internal ID6695976
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33135522..33135573hg38UCSC Ensembl
chr2:33360589..33360640hg19UCSC Ensembl
chr2:33214093..33214144hg18UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1003692
Supporting Variants
SamplesHuRef
Known GenesLTBP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3571280
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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