A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3567466



Internal ID7038848
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:224974797..224974800hg38UCSC Ensembl
chr2:225839514..225839517hg19UCSC Ensembl
chr2:225547758..225547761hg18UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38124
hg19124
hg18124
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1010048
Supporting Variants
SamplesHuRef
Known GenesDOCK10
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3567466
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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