A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3417018



Internal ID14917290
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51709589..51710511hg38UCSC Ensembl
Innerchr3:51709589..51710511hg38UCSC Ensembl
Outerchr3:51709095..51711210hg38UCSC Ensembl
chr3:51743605..51744527hg19UCSC Ensembl
Innerchr3:51743605..51744527hg19UCSC Ensembl
Outerchr3:51743111..51745226hg19UCSC Ensembl
chr3:51718645..51719567hg18UCSC Ensembl
Innerchr3:51718645..51719567hg18UCSC Ensembl
Outerchr3:51718151..51720266hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38923
hg19923
hg18923
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8652238
SamplesNA19240
Known GenesGRM2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3417018
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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