A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3303563



Internal ID15150511
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 StatusM
Merged Variants
Supporting Variantsessv7783498, essv7803162, essv7774314, essv7777098, essv7808983, essv7823836, essv7775518, essv7821178, essv7777352, essv7770874, essv7774753, essv7799939, essv7789882, essv7807635, essv7770192, essv7815160, essv7780093, essv7800865, essv7783733, essv7787229, essv7786804
SamplesNA18980, NA18561, NA12004, NA18959, NA12891, NA18558, NA11918, NA18582, NA12287, NA12815, NA12878, NA18537, NA18566, NA12892, NA18555, NA18542, NA11881, NA18961, NA07037, NA12006, NA12776
Known GenesIFI44L
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3303563
Frequency
Sample Size185
Observed Gain21
Observed Loss0
Observed Complex0
Frequencyn/a


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