A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306241



Internal ID14806503
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:2772340..2772341hg38UCSC Ensembl
Innerchr3:2772310..2772371hg38UCSC Ensembl
Outerchr3:2772309..2772372hg38UCSC Ensembl
chr3:2814024..2814025hg19UCSC Ensembl
Innerchr3:2813994..2814055hg19UCSC Ensembl
Outerchr3:2813993..2814056hg19UCSC Ensembl
chr3:2789024..2789025hg18UCSC Ensembl
Innerchr3:2789055..2788994hg18UCSC Ensembl
Outerchr3:2788993..2789056hg18UCSC Ensembl
Cytoband3p26.2
Allele length
AssemblyAllele length
hg38306
hg19306
hg18306
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7756069, essv7758242, essv7742339, essv7758609, essv7754547, essv7746314, essv7757474, essv7759109, essv7740827, essv7741432, essv7760258, essv7743656, essv7741888, essv7750811, essv7757912, essv7753323, essv7757702, essv7749566, essv7744828, essv7745633, essv7752261, essv7760466
SamplesNA18870, NA18861, NA18871, NA18561, NA18501, NA19093, NA18526, NA18948, NA12763, NA18508, NA18592, NA11831, NA19190, NA18572, NA06986, NA18522, NA18961, NA18909, NA19099, NA12717, NA18555, NA18519
Known GenesCNTN4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306241
Frequency
Sample Size185
Observed Gain22
Observed Loss0
Observed Complex0
Frequencyn/a


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