A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3572218



Internal ID6696914
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:26851335..26851335hg38UCSC Ensembl
chr2:27074203..27074203hg19UCSC Ensembl
chr2:26927707..26927707hg18UCSC Ensembl
Cytoband2p23.3
Allele length
AssemblyAllele length
hg38198
hg19198
hg18198
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009796
Supporting Variants
SamplesHuRef
Known GenesDPYSL5
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3572218
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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