A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307944



Internal ID14808206
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:156586462..156586463hg38UCSC Ensembl
Innerchr1:156586437..156586488hg38UCSC Ensembl
Outerchr1:156586436..156586489hg38UCSC Ensembl
chr1:156556254..156556255hg19UCSC Ensembl
Innerchr1:156556229..156556280hg19UCSC Ensembl
Outerchr1:156556228..156556281hg19UCSC Ensembl
chr1:154822878..154822879hg18UCSC Ensembl
Innerchr1:154822904..154822853hg18UCSC Ensembl
Outerchr1:154822852..154822905hg18UCSC Ensembl
Cytoband1q23.1
Allele length
AssemblyAllele length
hg38922
hg19922
hg18922
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7836663
SamplesNA19239
Known GenesTTC24
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307944
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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