A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995823



Internal ID7080133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:81546420..81550515hg38UCSC Ensembl
chr3:81595571..81599666hg19UCSC Ensembl
chr3:81678261..81682356hg18UCSC Ensembl
Cytoband3p12.2
Allele length
AssemblyAllele length
hg384096
hg194096
hg184096
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3585452
SamplesHuRef
Known GenesGBE1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995823
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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