A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1009594



Internal ID6721698
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:199447732..199447955hg38UCSC Ensembl
chr2:200312455..200312678hg19UCSC Ensembl
chr2:200020700..200020923hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg38224
hg19224
hg18224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3568400
SamplesHuRef
Known GenesSATB2
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1009594
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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