A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1758716



Internal ID1348800
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238430719..238431207hg19UCSC Ensembl
chr2:238095458..238095946hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19489
hg18489
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv4122654
SamplesHuRef
Known GenesMLPH
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1758716
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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