A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv631e201



Internal ID20125518
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:225018520..225018779hg38UCSC Ensembl
chr2:225883237..225883496hg19UCSC Ensembl
Cytoband2q36.2
Allele length
AssemblyAllele length
hg38260
hg19260
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2742067, esv2742863
SamplesSSM010, SSM003
Known GenesDOCK10
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)dgv631e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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