A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1232041



Internal ID12395164
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:42796881..42799335hg38UCSC Ensembl
chr3:42838373..42840827hg19UCSC Ensembl
chr3:42813377..42815831hg18UCSC Ensembl
Cytoband3p22.1
Allele length
AssemblyAllele length
hg382455
hg192455
hg182455
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv4145964
SamplesHuRef
Known GenesHIGD1A
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferenceLevy_et_al_2007
Pubmed ID17803354
Accession Number(s)esv1232041
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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