A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv451e201



Internal ID20125338
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:13886727..13887736hg38UCSC Ensembl
chr18:13886726..13887735hg19UCSC Ensembl
Cytoband18p11.21
Allele length
AssemblyAllele length
hg381010
hg191010
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2716826, esv2716824
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)dgv451e201
Frequency
Sample Size96
Observed Gain0
Observed Loss18
Observed Complex0
Frequencyn/a


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