A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3575182



Internal ID7046564
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 StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1001876
Supporting Variants
SamplesHuRef
Known GenesLOC440600
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3575182
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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