A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002880



Internal ID6715014
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr5:95209589..95217542hg38UCSC Ensembl
Outerchr5:94545293..94553246hg19UCSC Ensembl
Outerchr5:94571049..94579002hg18UCSC Ensembl
Cytoband5q15
Allele length
AssemblyAllele length
hg3818462
hg1918462
hg1818462
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564597
SamplesHuRef
Known GenesMCTP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002880
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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