A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3564597



Internal ID6689293
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 OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1002880
Supporting Variants
SamplesHuRef
Known GenesMCTP1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3564597
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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