A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744101



Internal ID10325071
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:10353180..10353652hg38UCSC Ensembl
Outerchr11:10374727..10375199hg19UCSC Ensembl
Cytoband11p15.4
Allele length
AssemblyAllele length
hg38473
hg19473
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6937518, essv6809226, essv6850894, essv6815314, essv6940145, essv6976836, essv6831138, essv6856927
SamplesSSM075, SSM087, SSM029, SSM003, SSM086, SSM081, SSM077, SSM022
Known GenesCAND1.11
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)esv2744101
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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