A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000228



Internal ID7065362
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:222616977..222617265hg38UCSC Ensembl
chr2:223481696..223481984hg19UCSC Ensembl
chr2:223189940..223190228hg18UCSC Ensembl
Cytoband2q36.1
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3569744
SamplesHuRef
Known GenesFARSB
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000228
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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