A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv595e201



Internal ID22759953
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:47084530..47084802hg38UCSC Ensembl
chr2:47311669..47311941hg19UCSC Ensembl
Cytoband2p21
Allele length
AssemblyAllele length
hg38273
hg19273
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742707, esv2720022
SamplesSSM045, SSM046, SSM073, SSM014
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)dgv595e201
Frequency
Sample Size96
Observed Gain0
Observed Loss4
Observed Complex0
Frequencyn/a


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