A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575124



Internal ID6699820
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv995514
Supporting Variants
SamplesHuRef
Known GenesMYL5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575124
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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