A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6672885



Internal ID10090562
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18920252..18942453hg38UCSC Ensembl
Outerchr11:18941799..18964000hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822202
hg1922202
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2744173, esv2744174
Supporting Variants
SamplesSSM031
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)essv6672885
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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