A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8830907



Internal ID13651982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:145891037..145891037hg38UCSC Ensembl
Innerchr3:145891036..145891038hg38UCSC Ensembl
Outerchr3:145890977..145891087hg38UCSC Ensembl
chr3:145608824..145608824hg19UCSC Ensembl
Innerchr3:145608823..145608825hg19UCSC Ensembl
Outerchr3:145608764..145608874hg19UCSC Ensembl
chr3:147091514..147091514hg18UCSC Ensembl
Innerchr3:147091515..147091513hg18UCSC Ensembl
Outerchr3:147091454..147091564hg18UCSC Ensembl
Cytoband3q24
Allele length
AssemblyAllele length
hg3866
hg1966
hg1866
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag1
Merged StatusS
Merged Variantsesv3394820
Supporting Variants
SamplesNA12878
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8830907
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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