A curated catalogue of human genomic structural variation




Variant Details

Variant: esv989967



Internal ID6725935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:24910223..24922671hg38UCSC Ensembl
Outerchr2:25133092..25145540hg19UCSC Ensembl
Outerchr2:24986596..24999044hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg3812449
hg1912449
hg1812449
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564303
SamplesHuRef
Known GenesADCY3
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv989967
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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