A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3306125



Internal ID14806387
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:42302953..42302954hg38UCSC Ensembl
Innerchr1:42302888..42303019hg38UCSC Ensembl
Outerchr1:42302887..42303020hg38UCSC Ensembl
chr1:42768624..42768625hg19UCSC Ensembl
Innerchr1:42768559..42768690hg19UCSC Ensembl
Outerchr1:42768558..42768691hg19UCSC Ensembl
chr1:42541211..42541212hg18UCSC Ensembl
Innerchr1:42541277..42541146hg18UCSC Ensembl
Outerchr1:42541145..42541278hg18UCSC Ensembl
Cytoband1p34.2
Allele length
AssemblyAllele length
hg38233
hg19233
hg18233
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7746852, essv7758268, essv7763163, essv7755807
SamplesNA19102, NA18522, NA19138, NA18907
Known GenesFOXJ3
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3306125
Frequency
Sample Size185
Observed Gain4
Observed Loss0
Observed Complex0
Frequencyn/a


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