A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1581868



Internal ID1634133
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238453468..238453810hg19UCSC Ensembl
chr2:238118207..238118549hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19343
hg18343
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4185626
SamplesHuRef
Known GenesMLPH
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1581868
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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