A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv675e201



Internal ID22760033
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63037642..63038160hg38UCSC Ensembl
chr20:61668994..61669512hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38519
hg19519
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2722869, esv2722867
SamplesSSM071, SSM024, SSM045, SSM079, SSM028, SSM018, SSM017, SSM031, SSM067, SSM081, SSM016, SSM098
Known GenesLINC01056, LOC63930
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)dgv675e201
Frequency
Sample Size96
Observed Gain0
Observed Loss12
Observed Complex0
Frequencyn/a


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