A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3574044



Internal ID7045426
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:8588056..8588056hg38UCSC Ensembl
chr2:8728186..8728186hg19UCSC Ensembl
chr2:8645637..8645637hg18UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg3850
hg1950
hg1850
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv991725
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3574044
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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