A curated catalogue of human genomic structural variation




Variant Details

Variant: esv990475



Internal ID7076606
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:48554390..48558015hg38UCSC Ensembl
Outerchr2:48781529..48785154hg19UCSC Ensembl
Outerchr2:48635033..48638658hg18UCSC Ensembl
Cytoband2p16.3
Allele length
AssemblyAllele length
hg383626
hg193626
hg183626
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564823
SamplesHuRef
Known GenesSTON1, STON1-GTF2A1L
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv990475
Frequency
Sample Size3
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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