A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306044



Internal ID14806306
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:147383071..147383072hg38UCSC Ensembl
Innerchr7:147383000..147383143hg38UCSC Ensembl
Outerchr7:147382999..147383144hg38UCSC Ensembl
chr7:147080163..147080164hg19UCSC Ensembl
Innerchr7:147080092..147080235hg19UCSC Ensembl
Outerchr7:147080091..147080236hg19UCSC Ensembl
chr7:146711096..146711097hg18UCSC Ensembl
Innerchr7:146711168..146711025hg18UCSC Ensembl
Outerchr7:146711024..146711169hg18UCSC Ensembl
Cytoband7q35
Allele length
AssemblyAllele length
hg38241
hg19241
hg18241
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7744588, essv7747877, essv7750521, essv7750290, essv7743319
SamplesNA19257, NA19239, NA18916, NA18498, NA19225
Known GenesCNTNAP2, MIR548I4
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306044
Frequency
Sample Size185
Observed Gain5
Observed Loss0
Observed Complex0
Frequencyn/a


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