A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3448054



Internal ID15295003
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:124630667..124630686hg38UCSC Ensembl
Innerchr4:124630663..124630690hg38UCSC Ensembl
Outerchr4:124630644..124630709hg38UCSC Ensembl
chr4:125551822..125551841hg19UCSC Ensembl
Innerchr4:125551818..125551845hg19UCSC Ensembl
Outerchr4:125551799..125551864hg19UCSC Ensembl
chr4:125771272..125771291hg18UCSC Ensembl
Innerchr4:125771295..125771268hg18UCSC Ensembl
Outerchr4:125771249..125771314hg18UCSC Ensembl
Cytoband4q28.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv9617846
SamplesNA12812
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3448054
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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