A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992753



Internal ID7062246
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:85595087..85598121hg38UCSC Ensembl
Outerchr2:85822210..85825244hg19UCSC Ensembl
Outerchr2:85675721..85678755hg18UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg383035
hg193035
hg183035
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3565219
SamplesHuRef
Known GenesRNF181
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992753
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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