A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2718128



Internal ID9952419
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:152306346..152308454hg38UCSC Ensembl
Outerchr1:152278822..152280930hg19UCSC Ensembl
Cytoband1q21.3
Allele length
AssemblyAllele length
hg382109
hg192109
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6759143, essv6933409, essv6736064, essv6696476
SamplesSSM006, SSM061, SSM050, SSM021
Known GenesFLG
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)esv2718128
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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