A curated catalogue of human genomic structural variation




Variant Details

Variant: essv8652238



Internal ID14755816
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 StatusS
Merged Variantsesv3417018
Supporting Variants
SamplesNA19240
Known GenesGRM2
MethodSequencing
Analysis
PlatformSOLiD
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv8652238
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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