A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716826



Internal ID9951115
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13886942..13887736hg38UCSC Ensembl
Outerchr18:13886941..13887735hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38795
hg19795
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451e201
Supporting Variantsessv6971659, essv6828462, essv6932719, essv6772866, essv6877257, essv6820570, essv6945374, essv6769102, essv6941190, essv6846531, essv6916864, essv6928590, essv6792672
SamplesSSM064, SSM065, SSM028, SSM092, SSM019, SSM003, SSM085, SSM020, SSM078, SSM016, SSM080, SSM022, SSM070
Known GenesMC2R
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)esv2716826
Frequency
Sample Size96
Observed Gain0
Observed Loss13
Observed Complex0
Frequencyn/a


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