A curated catalogue of human genomic structural variation




Variant Details

Variant: essv9611413



Internal ID12829663
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:120706605..120706624hg38UCSC Ensembl
Innerchr3:120706601..120706628hg38UCSC Ensembl
Outerchr3:120706582..120706647hg38UCSC Ensembl
chr3:120425452..120425471hg19UCSC Ensembl
Innerchr3:120425448..120425475hg19UCSC Ensembl
Outerchr3:120425429..120425494hg19UCSC Ensembl
chr3:121908142..121908161hg18UCSC Ensembl
Innerchr3:121908165..121908138hg18UCSC Ensembl
Outerchr3:121908119..121908184hg18UCSC Ensembl
Cytoband3q13.33
Allele length
AssemblyAllele length
hg38300
hg19300
hg18300
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3392544
Supporting Variants
SamplesNA11881
Known GenesRABL3
MethodSequencing
Analysis
Platform454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv9611413
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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