A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv456e201



Internal ID20125343
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr18:57024331..57025099hg38UCSC Ensembl
chr18:54691562..54692330hg19UCSC Ensembl
Cytoband18q21.31
Allele length
AssemblyAllele length
hg38769
hg19769
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741299, esv2717141
SamplesSSM033, SSM031, SSM047, SSM096, SSM070
Known GenesWDR7
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)dgv456e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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