A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2716824



Internal ID9951113
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr18:13886727..13887605hg38UCSC Ensembl
Outerchr18:13886726..13887604hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg38879
hg19879
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv451e201
Supporting Variantsessv6913402, essv6971659, essv6967065, essv6828462, essv6932719, essv6772866, essv6666003, essv6877257, essv6905637, essv6820570, essv6945374, essv6769102, essv6741712, essv6941190, essv6846531, essv6916864, essv6928590, essv6792672
SamplesSSM027, SSM064, SSM065, SSM013, SSM028, SSM092, SSM029, SSM019, SSM003, SSM085, SSM020, SSM015, SSM078, SSM016, SSM080, SSM022, SSM070, SSM052
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)esv2716824
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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