A curated catalogue of human genomic structural variation




Variant Details

Variant: esv997081



Internal ID6733023
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:237654461..237657257hg38UCSC Ensembl
Outerchr2:238563104..238565900hg19UCSC Ensembl
Outerchr2:238227843..238230639hg18UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg384887
hg194887
hg184887
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3563917
SamplesHuRef
Known GenesLRRFIP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv997081
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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