A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv956e201



Internal ID20125843
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr5:132275008..132275834hg38UCSC Ensembl
chr5:131610701..131611527hg19UCSC Ensembl
Cytoband5q31.1
Allele length
AssemblyAllele length
hg38827
hg19827
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2730785, esv2730787
SamplesSSM027, SSM011, SSM064, SSM065, SSM087, SSM009, SSM084, SSM029, SSM017, SSM003, SSM066, SSM040, SSM007, SSM070, SSM099
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)dgv956e201
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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