A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6965516



Internal ID10069731
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18920422..18942462hg38UCSC Ensembl
Outerchr11:18941969..18964009hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822041
hg1922041
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744173, esv2744174
Supporting Variants
SamplesSSM027
Known GenesMRGPRX1
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)essv6965516
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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