A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744166



Internal ID9978450
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18129836..18177209hg38UCSC Ensembl
Outerchr11:18151383..18198756hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3847374
hg1947374
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6684927, essv6746702, essv6897798, essv6850918, essv6770364, essv6686131, essv6809235, essv6965514, essv6937618, essv6743904, essv6740915, essv6976854, essv6771913, essv6735070, essv6760836, essv6940158, essv6749550, essv6737764, essv6915975, essv6944728, essv6724339, essv6758100, essv6755408, essv6752445, essv6969884, essv6688144, essv6686120, essv6935950, essv6948901, essv6791685, essv6856945
SamplesSSM059, SSM008, SSM027, SSM024, SSM075, SSM045, SSM065, SSM087, SSM050, SSM057, SSM023, SSM058, SSM021, SSM061, SSM029, SSM035, SSM003, SSM086, SSM016, SSM053, SSM005, SSM022, SSM055, SSM070, SSM034, SSM004, SSM052, SSM049, SSM056, SSM012
Known GenesMRGPRX3, MRGPRX4
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)esv2744166
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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