A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1002328



Internal ID7067444
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2536161..2536161hg38UCSC Ensembl
chr2:2539933..2539933hg19UCSC Ensembl
chr2:2518940..2518940hg18UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38319
hg19319
hg18319
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3572782
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1002328
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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