A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756072



Internal ID14386836
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:16694265..16694266hg38UCSC Ensembl
Innerchr3:16694199..16694332hg38UCSC Ensembl
Outerchr3:16694198..16694333hg38UCSC Ensembl
chr3:16735772..16735773hg19UCSC Ensembl
Innerchr3:16735706..16735839hg19UCSC Ensembl
Outerchr3:16735705..16735840hg19UCSC Ensembl
chr3:16710776..16710777hg18UCSC Ensembl
Innerchr3:16710843..16710710hg18UCSC Ensembl
Outerchr3:16710709..16710844hg18UCSC Ensembl
Cytoband3p24.3
Allele length
AssemblyAllele length
hg38205
hg19205
hg18205
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3304983
Supporting Variants
SamplesNA18870
Known Genes
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756072
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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