A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2744910



Internal ID10325880
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:92705337..92706067hg38UCSC Ensembl
Outerchr11:92438503..92439233hg19UCSC Ensembl
Cytoband11q14.3
Allele length
AssemblyAllele length
hg38731
hg19731
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6815393, essv6834803, essv6823548, essv6904831, essv6940241, essv6912509, essv6842344, essv6948992, essv6673013
SamplesSSM024, SSM079, SSM013, SSM084, SSM031, SSM082, SSM015, SSM077, SSM022
Known GenesFAT3
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)esv2744910
Frequency
Sample Size96
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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