A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744174



Internal ID10325144
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:18920118..18942277hg38UCSC Ensembl
Outerchr11:18941665..18963824hg19UCSC Ensembl
Cytoband11p15.1
Allele length
AssemblyAllele length
hg3822160
hg1922160
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6672885, essv6948902, essv6935951, essv6795868, essv6735071, essv6686142, essv6783403, essv6897525, essv6919990, essv6965516, essv6838461, essv6765669, essv6763280, essv6728170, essv6887875, essv6834737, essv6976855, essv6702264
SamplesSSM083, SSM071, SSM027, SSM024, SSM046, SSM039, SSM021, SSM029, SSM096, SSM062, SSM017, SSM031, SSM068, SSM082, SSM005, SSM099, SSM049, SSM063
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)esv2744174
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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