A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv577e201



Internal ID22759935
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:2792621..2793136hg38UCSC Ensembl
chr2:2796393..2796908hg19UCSC Ensembl
Cytoband2p25.3
Allele length
AssemblyAllele length
hg38516
hg19516
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2719443, esv2719445
SamplesSSM071, SSM045, SSM046, SSM079, SSM084, SSM047, SSM096, SSM026, SSM035, SSM032, SSM067, SSM068, SSM072, SSM082, SSM080, SSM037, SSM091, SSM034, SSM098
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)dgv577e201
Frequency
Sample Size96
Observed Gain0
Observed Loss19
Observed Complex0
Frequencyn/a


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