A curated catalogue of human genomic structural variation




Variant Details

Variant: esv992569



Internal ID7078130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:196721366..196721366hg38UCSC Ensembl
chr2:197586090..197586090hg19UCSC Ensembl
chr2:197294335..197294335hg18UCSC Ensembl
Cytoband2q33.1
Allele length
AssemblyAllele length
hg3865
hg1965
hg1865
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3577329
SamplesHuRef
Known GenesCCDC150
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv992569
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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