A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2745032



Internal ID9979316
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr11:106712166..106713021hg38UCSC Ensembl
Outerchr11:106582892..106583747hg19UCSC Ensembl
Cytoband11q22.3
Allele length
AssemblyAllele length
hg38856
hg19856
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6953148, essv6867047, essv6876596, essv6819613, essv6728258, essv6908786, essv6710599
SamplesSSM092, SSM006, SSM078, SSM089, SSM025, SSM046, SSM014
Known GenesGUCY1A2
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)esv2745032
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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