A curated catalogue of human genomic structural variation




Variant Details

Variant: essv7787229



Internal ID14074377
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:78643146..78643147hg38UCSC Ensembl
Innerchr1:78643129..78643164hg38UCSC Ensembl
Outerchr1:78643128..78643165hg38UCSC Ensembl
chr1:79108831..79108832hg19UCSC Ensembl
Innerchr1:79108814..79108849hg19UCSC Ensembl
Outerchr1:79108813..79108850hg19UCSC Ensembl
chr1:78881419..78881420hg18UCSC Ensembl
Innerchr1:78881437..78881402hg18UCSC Ensembl
Outerchr1:78881401..78881438hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38112
hg19112
hg18112
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv3303563
Supporting Variants
SamplesNA18561
Known GenesIFI44L
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)essv7787229
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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