A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716805



Internal ID9951094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11880053..11880349hg38UCSC Ensembl
Outerchr18:11880052..11880348hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38297
hg19297
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6863282, essv6967060, essv6703264, essv6703263, essv6945839, essv6741706
SamplesSSM027, SSM088, SSM039, SSM023, SSM052
Known GenesGNAL
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)esv2716805
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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