A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv625e201



Internal ID20125512
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:178432240..178441593hg38UCSC Ensembl
chr2:179296967..179306320hg19UCSC Ensembl
Cytoband2q31.2
Allele length
AssemblyAllele length
hg389354
hg199354
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2741586, esv2741559
SamplesSSM062, SSM063
Known GenesMIR548N, PRKRA
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)dgv625e201
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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