A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv816e201



Internal ID20125703
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr4:8233992..8234176hg38UCSC Ensembl
chr4:8235719..8235903hg19UCSC Ensembl
Cytoband4p16.1
Allele length
AssemblyAllele length
hg38185
hg19185
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2727107, esv2727104
SamplesSSM083, SSM071, SSM029, SSM026, SSM089, SSM003, SSM031, SSM015
Known GenesSH3TC1
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)dgv816e201
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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