A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2743892



Internal ID10324862
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:1078693..1081339hg38UCSC Ensembl
Outerchr11:1078837..1079493hg19UCSC Ensembl
Cytoband11p15.5
Allele length
AssemblyAllele length
hg382647
hg19657
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv126e201
Supporting Variantsessv6720502, essv6712819, essv6684902, essv6688122, essv6815292, essv6948872, essv6838439, essv6775538, essv6716600, essv6827498, essv6720503
SamplesSSM083, SSM024, SSM042, SSM035, SSM044, SSM066, SSM080, SSM077, SSM034, SSM043
Known GenesMUC2
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)esv2743892
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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