A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3582247



Internal ID6706943
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:166065984..166065984hg38UCSC Ensembl
chr4:166987136..166987136hg19UCSC Ensembl
chr4:167206586..167206586hg18UCSC Ensembl
Cytoband4q32.3
Allele length
AssemblyAllele length
hg38129
hg19129
hg18129
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1005389
Supporting Variants
SamplesHuRef
Known GenesTLL1
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3582247
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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