A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv644e201



Internal ID20125531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:241115779..241116299hg38UCSC Ensembl
chr2:242055194..242055714hg19UCSC Ensembl
Cytoband2q37.3
Allele length
AssemblyAllele length
hg38521
hg19521
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2721979, esv2721980
SamplesSSM065, SSM027, SSM013, SSM033, SSM099, SSM064, SSM020, SSM032, SSM039, SSM024, SSM067, SSM066, SSM037, SSM046, SSM068, SSM044, SSM080
Known GenesPASK
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)dgv644e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


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