A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv472e201



Internal ID20125359
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:78370057..78373204hg38UCSC Ensembl
chr18:76130057..76133204hg19UCSC Ensembl
Cytoband18q23
Allele length
AssemblyAllele length
hg383148
hg193148
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2717510, esv2717512
SamplesSSM083, SSM071, SSM079, SSM093, SSM084, SSM069, SSM032, SSM044, SSM086, SSM020, SSM077, SSM070
Known Genes
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)dgv472e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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