A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1383761



Internal ID12546883
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:27918657..27918711hg38UCSC Ensembl
chr8:27776174..27776228hg19UCSC Ensembl
chr8:27832093..27832147hg18UCSC Ensembl
Cytoband8p21.1
Allele length
AssemblyAllele length
hg3855
hg1955
hg1855
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4187820
SamplesHuRef
Known GenesSCARA5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1383761
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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