A curated catalogue of human genomic structural variation




Variant Details

Variant: esv1001876



Internal ID6714010
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:110310154..110310154hg38UCSC Ensembl
chr1:110852776..110852776hg19UCSC Ensembl
chr1:110654299..110654299hg18UCSC Ensembl
Cytoband1p13.3
Allele length
AssemblyAllele length
hg3881
hg1981
hg1881
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv3575182
SamplesHuRef
Known GenesLOC440600
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)esv1001876
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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