A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv593e201



Internal ID20125480
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:33256702..33256854hg38UCSC Ensembl
chr2:33481769..33481921hg19UCSC Ensembl
Cytoband2p22.3
Allele length
AssemblyAllele length
hg38153
hg19153
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719886, esv2719888
SamplesSSM086, SSM031, SSM028, SSM047, SSM021
Known GenesLTBP1
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)dgv593e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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