A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002865



Internal ID6714999
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:105045649..105049133hg38UCSC Ensembl
chr2:105662107..105665591hg19UCSC Ensembl
chr2:105028539..105032023hg18UCSC Ensembl
Cytoband2q12.1
Allele length
AssemblyAllele length
hg383485
hg193485
hg183485
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv86e180
Supporting Variantsessv3569910
SamplesHuRef
Known GenesMRPS9
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002865
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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