A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716802



Internal ID9951091
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:11805171..11805356hg38UCSC Ensembl
Outerchr18:11805170..11805355hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38186
hg19186
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv450e201
Supporting Variantsessv6932714, essv6792666, essv6780236, essv6674393
SamplesSSM031, SSM020, SSM067, SSM070
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)esv2716802
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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