A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9609780



Internal ID13619096
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:51729904..51729923hg38UCSC Ensembl
Innerchr3:51729900..51729927hg38UCSC Ensembl
Outerchr3:51729881..51729946hg38UCSC Ensembl
chr3:51763920..51763939hg19UCSC Ensembl
Innerchr3:51763916..51763943hg19UCSC Ensembl
Outerchr3:51763897..51763962hg19UCSC Ensembl
chr3:51738960..51738979hg18UCSC Ensembl
Innerchr3:51738983..51738956hg18UCSC Ensembl
Outerchr3:51738937..51739002hg18UCSC Ensembl
Cytoband3p21.1
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3444515
Supporting Variants
SamplesNA12874
Known Genes
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9609780
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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