A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8830947



Internal ID13305807
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:148883900..148883900hg38UCSC Ensembl
Innerchr3:148883899..148883901hg38UCSC Ensembl
Outerchr3:148883840..148883950hg38UCSC Ensembl
chr3:148601687..148601687hg19UCSC Ensembl
Innerchr3:148601686..148601688hg19UCSC Ensembl
Outerchr3:148601627..148601737hg19UCSC Ensembl
chr3:150084377..150084377hg18UCSC Ensembl
Innerchr3:150084378..150084376hg18UCSC Ensembl
Outerchr3:150084317..150084427hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3892
hg1992
hg1892
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3349668
Supporting Variants
SamplesNA12878
Known GenesCPA3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8830947
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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