A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3578558



Internal ID6703254
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:243338983..243339036hg38UCSC Ensembl
chr1:243502285..243502338hg19UCSC Ensembl
chr1:241568908..241568961hg18UCSC Ensembl
Cytoband1q43
Allele length
AssemblyAllele length
hg3854
hg1954
hg1854
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991124
Supporting Variants
SamplesHuRef
Known GenesSDCCAG8
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3578558
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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