A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv580e201



Internal ID22759938
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2936076..2937256hg38UCSC Ensembl
chr2:2939848..2941028hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg381181
hg191181
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719465, esv2719467
SamplesSSM059, SSM083, SSM071, SSM027, SSM011, SSM079, SSM039, SSM042, SSM023, SSM028, SSM084, SSM090, SSM069, SSM026, SSM089, SSM032, SSM001, SSM014, SSM033, SSM068, SSM072, SSM020, SSM016, SSM080, SSM077, SSM022, SSM091, SSM055, SSM025, SSM043
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)dgv580e201
Frequency
Sample Size96
Observed Gain0
Observed Loss30
Observed Complex0
Frequencyn/a


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