A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3439940



Internal ID14940207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2920308..2920318hg38UCSC Ensembl
Innerchr3:2920300..2920326hg38UCSC Ensembl
Outerchr3:2920290..2920336hg38UCSC Ensembl
chr3:2961992..2962002hg19UCSC Ensembl
Innerchr3:2961984..2962010hg19UCSC Ensembl
Outerchr3:2961974..2962020hg19UCSC Ensembl
chr3:2936992..2937002hg18UCSC Ensembl
Innerchr3:2937010..2936984hg18UCSC Ensembl
Outerchr3:2936974..2937020hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38289
hg19289
hg18289
Variant TypeCNV insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8675161, essv8675158, essv8675163, essv8675159, essv8675160, essv8675162
SamplesNA19239, NA12892, NA19238, NA12891, NA12878, NA19240
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3439940
Frequency
Sample Size185
Observed Gain6
Observed Loss0
Observed Complex0
Frequencyn/a


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