A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv328e201



Internal ID20125215
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr16:7229394..7229742hg38UCSC Ensembl
chr16:7279395..7279743hg19UCSC Ensembl
Cytoband16p13.3
Allele length
AssemblyAllele length
hg38349
hg19349
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2750468, esv2750470
SamplesSSM013, SSM086, SSM084, SSM078, SSM087
Known GenesRBFOX1
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)dgv328e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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