A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7864192



Internal ID13228802
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:134738969..134738982hg38UCSC Ensembl
Innerchr3:134738947..134739004hg38UCSC Ensembl
Outerchr3:134738934..134739017hg38UCSC Ensembl
chr3:134457811..134457824hg19UCSC Ensembl
Innerchr3:134457789..134457846hg19UCSC Ensembl
Outerchr3:134457776..134457859hg19UCSC Ensembl
chr3:135940501..135940514hg18UCSC Ensembl
Innerchr3:135940536..135940479hg18UCSC Ensembl
Outerchr3:135940466..135940549hg18UCSC Ensembl
Cytoband3q22.2
Allele length
AssemblyAllele length
hg3852
hg1952
hg1852
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3439663
Supporting Variants
SamplesNA11992
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7864192
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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