A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3386922



Internal ID14887204
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:94821575..94821594hg38UCSC Ensembl
Innerchr4:94821571..94821598hg38UCSC Ensembl
Outerchr4:94821552..94821617hg38UCSC Ensembl
chr4:95742726..95742745hg19UCSC Ensembl
Innerchr4:95742722..95742749hg19UCSC Ensembl
Outerchr4:95742703..95742768hg19UCSC Ensembl
chr4:95961749..95961768hg18UCSC Ensembl
Innerchr4:95961772..95961745hg18UCSC Ensembl
Outerchr4:95961726..95961791hg18UCSC Ensembl
Cytoband4q22.3
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 Variantsessv9616902
SamplesNA12872
Known GenesBMPR1B
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3386922
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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