A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv781e201



Internal ID22760139
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr3:137595726..137600992hg38UCSC Ensembl
chr3:137314568..137319834hg19UCSC Ensembl
Cytoband3q22.3
Allele length
AssemblyAllele length
hg385267
hg195267
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742833, esv2743166, esv2741215
SamplesSSM017, SSM007, SSM025
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)dgv781e201
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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