A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6783403



Internal ID10187559
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18920218..18942460hg38UCSC Ensembl
Outerchr11:18941765..18964007hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822243
hg1922243
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744173, esv2744174
Supporting Variants
SamplesSSM068
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)essv6783403
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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