A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7756128



Internal ID14386940
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:128324235..128324236hg38UCSC Ensembl
Innerchr3:128324205..128324266hg38UCSC Ensembl
Outerchr3:128324204..128324267hg38UCSC Ensembl
chr3:128043078..128043079hg19UCSC Ensembl
Innerchr3:128043048..128043109hg19UCSC Ensembl
Outerchr3:128043047..128043110hg19UCSC Ensembl
chr3:129525768..129525769hg18UCSC Ensembl
Innerchr3:129525799..129525738hg18UCSC Ensembl
Outerchr3:129525737..129525800hg18UCSC Ensembl
Cytoband3q21.3
Allele length
AssemblyAllele length
hg38138
hg19138
hg18138
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3306834
Supporting Variants
SamplesNA18870
Known GenesEEFSEC
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7756128
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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