A curated catalogue of human genomic structural variation




Variant Details

Variant: essv3570627



Internal ID7042009
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:13522112..13522112hg38UCSC Ensembl
chr1:13848607..13848607hg19UCSC Ensembl
chr1:13721194..13721194hg18UCSC Ensembl
Cytoband1p36.21
Allele length
AssemblyAllele length
hg38128
hg19128
hg18128
Variant TypeCNV insertion
Copy Number
Allele StateHeterozygous
Allele OriginNot tested
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv1009061
Supporting Variants
SamplesHuRef
Known Genes
MethodSequencing
Analysis
PlatformSanger Sequencing
Comments
ReferencePang_et_al_2010
Pubmed ID20482838
Accession Number(s)essv3570627
Frequency
Sample Size3
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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