A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3307085



Internal ID15154033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr1:77112227..77112228hg38UCSC Ensembl
Innerchr1:77112210..77112245hg38UCSC Ensembl
Outerchr1:77112209..77112246hg38UCSC Ensembl
chr1:77577912..77577913hg19UCSC Ensembl
Innerchr1:77577895..77577930hg19UCSC Ensembl
Outerchr1:77577894..77577931hg19UCSC Ensembl
chr1:77350500..77350501hg18UCSC Ensembl
Innerchr1:77350518..77350483hg18UCSC Ensembl
Outerchr1:77350482..77350519hg18UCSC Ensembl
Cytoband1p31.1
Allele length
AssemblyAllele length
hg38307
hg19307
hg18307
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7812601, essv7821307, essv7787871, essv7815678, essv7814045, essv7791527, essv7826139, essv7806165, essv7799449, essv7771453, essv7798828, essv7804600, essv7825286, essv7806757, essv7781472, essv7802692, essv7778491, essv7815201, essv7836381, essv7805271, essv7795174, essv7814592, essv7835402, essv7797174, essv7803222, essv7831944, essv7793203, essv7819589, essv7823298
SamplesNA18508, NA18603, NA12045, NA18504, NA19190, NA18870, NA18510, NA18489, NA18558, NA19138, NA18498, NA12761, NA19172, NA19239, NA18638, NA12489, NA18516, NA12234, NA18499, NA18856, NA12249, NA18853, NA18858, NA19108, NA19147, NA07037, NA19093, NA18522, NA12776
Known GenesPIGK
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3307085
Frequency
Sample Size185
Observed Gain29
Observed Loss0
Observed Complex0
Frequencyn/a


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