A curated catalogue of human genomic structural variation




Variant Details

Variant: esv995514



Internal ID6731464
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:679159..679159hg38UCSC Ensembl
chr4:672948..672948hg19UCSC Ensembl
chr4:662948..662948hg18UCSC Ensembl
Cytoband4p16.3
Allele length
AssemblyAllele length
hg38113
hg19113
hg18113
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575124
SamplesHuRef
Known GenesMYL5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv995514
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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