A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7744843



Internal ID14621745
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2129413..2129414hg38UCSC Ensembl
Innerchr3:2129382..2129445hg38UCSC Ensembl
Outerchr3:2129381..2129446hg38UCSC Ensembl
chr3:2171097..2171098hg19UCSC Ensembl
Innerchr3:2171066..2171129hg19UCSC Ensembl
Outerchr3:2171065..2171130hg19UCSC Ensembl
chr3:2146097..2146098hg18UCSC Ensembl
Innerchr3:2146129..2146066hg18UCSC Ensembl
Outerchr3:2146065..2146130hg18UCSC Ensembl
Cytoband3p26.3
Allele length
AssemblyAllele length
hg38276
hg19276
hg18276
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3307471
Supporting Variants
SamplesNA19190
Known GenesCNTN4, CNTN4-AS2
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7744843
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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