A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1000382



Internal ID7065512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr2:123682638..123687513hg38UCSC Ensembl
Outerchr2:124440214..124445089hg19UCSC Ensembl
Outerchr2:124156684..124161559hg18UCSC Ensembl
Cytoband2q14.3
Allele length
AssemblyAllele length
hg383108
hg193108
hg183108
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3564547
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1000382
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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