A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2678047



Internal ID9597466
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr11:3217508..3222856hg38UCSC Ensembl
chr11:3238738..3244086hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg385349
hg195349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv5798749, essv6014077, essv6380339, essv5752255, essv5931709, essv5912058, essv6434876, essv6552984, essv5913594, essv6057645, essv5674996, essv5846596, essv5458591, essv5685165, essv5494306, essv5941094, essv5463776, essv5953279, essv5506149, essv6313293, essv5550524, essv6026797, essv5823726, essv6175918, essv5862946, essv5930117, essv6466468, essv5464507, essv5557962, essv5464910, essv6419494, essv5503314, essv5468452, essv5698186, essv6131509, essv5540994, essv6597676, essv6308779, essv5894163, essv5870156, essv5849200, essv5817489, essv6089751, essv5542532
SamplesNA20787, HG00100, NA19435, NA19317, HG01492, NA19150, HG01174, HG01188, NA20805, HG01204, NA19685, NA19648, NA20770, HG01107, NA11919, HG00638, HG01047, NA19396, NA19440, HG01136, HG00159, HG01437, NA20512, NA19384, NA19657, HG01073, HG01170, HG01080, NA20813, NA11832, NA20537, HG01190, NA12272, NA20756, NA18909, NA06984, NA19446, NA19473, NA20538, NA19385, HG00278, NA19661, NA12775, HG01198
Known GenesMRGPRG, MRGPRG-AS1
MethodMerging
AnalysisNo reference, merging analysis
PlatformMerging
CommentsHigh quality site
Reference1000_Genomes_Consortium_Phase_1
Pubmed ID23128226
Accession Number(s)esv2678047
Frequency
Sample Size1151
Observed Gain0
Observed Loss44
Observed Complex0
Frequencyn/a


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