A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1243e201



Internal ID20126130
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:144531781..144532004hg38UCSC Ensembl
chr8:145757165..145757388hg19UCSC Ensembl
Cytoband8q24.3
Allele length
AssemblyAllele length
hg38224
hg19224
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2738071, esv2738074
SamplesSSM022, SSM007, SSM033, SSM040, SSM078, SSM031, SSM016, SSM011, SSM073, SSM019, SSM096, SSM004, SSM026, SSM070
Known GenesARHGAP39
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)dgv1243e201
Frequency
Sample Size96
Observed Gain0
Observed Loss14
Observed Complex0
Frequencyn/a


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