A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3305918



Internal ID15152866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr7:80793843..80793844hg38UCSC Ensembl
Innerchr7:80793825..80793862hg38UCSC Ensembl
Outerchr7:80793824..80793863hg38UCSC Ensembl
chr7:80423159..80423160hg19UCSC Ensembl
Innerchr7:80423141..80423178hg19UCSC Ensembl
Outerchr7:80423140..80423179hg19UCSC Ensembl
chr7:80261095..80261096hg18UCSC Ensembl
Innerchr7:80261114..80261077hg18UCSC Ensembl
Outerchr7:80261076..80261115hg18UCSC Ensembl
Cytoband7q21.11
Allele length
AssemblyAllele length
hg38298
hg19298
hg18298
Variant TypeCNV mobile element insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv7771511, essv7780533, essv7808894, essv7776088, essv7797609, essv7834168, essv7792934, essv7822840, essv7823994, essv7814891, essv7790560, essv7786498, essv7771103, essv7779867, essv7833244, essv7825565, essv7808445, essv7783888, essv7777669, essv7803683, essv7801398, essv7802711, essv7815480, essv7786150, essv7775320
SamplesNA12717, NA11830, NA18861, NA12045, NA18959, NA07357, NA18563, NA12891, NA18916, NA11992, NA11918, NA18582, NA12287, NA18498, NA18579, NA18948, NA18570, NA12716, NA18564, NA12763, NA19129, NA12006, NA07000, NA12154, NA12776
Known GenesSEMA3C
MethodSequencing
Analysis
PlatformRoche 454
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3305918
Frequency
Sample Size185
Observed Gain25
Observed Loss0
Observed Complex0
Frequencyn/a


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