A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1183e201



Internal ID22760541
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:1297917..1298083hg38UCSC Ensembl
chr8:1246173..1246342hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38167
hg19170
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736215, esv2736216
SamplesSSM036, SSM008, SSM027, SSM046, SSM079, SSM087, SSM042, SSM041, SSM018, SSM026, SSM031, SSM086, SSM072, SSM077, SSM043
Known GenesLOC286083
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)dgv1183e201
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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