A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1466648



Internal ID1248516
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:238453150..238453434hg19UCSC Ensembl
chr2:238117889..238118173hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg19285
hg18285
Variant TypeCNV Deletion
Copy Number
Allele State
Allele OriginNot tested
Probe Count
Merged StatusS
Merged Variants
Supporting Variantsessv3704805
SamplesHuRef
Known GenesMLPH
Method
AnalysisRegion identical to calls - DGVa curated
PlatformSanger Sequencing
Comments
ReferenceLevy et al 2007
Pubmed ID17803354
Accession Number(s)esv1466648
Frequency
Sample Size2
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer