A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575112



Internal ID7046494
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:194357224..194357288hg38UCSC Ensembl
chr3:194077953..194078017hg19UCSC Ensembl
chr3:195559248..195559312hg18UCSC Ensembl
Cytoband3q29
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV deletion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995002
Supporting Variants
SamplesHuRef
Known GenesLRRC15
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575112
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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