A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1173e201



Internal ID22760531
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:965351..965917hg38UCSC Ensembl
chr8:915351..915917hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38567
hg19567
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736101, esv2736099
SamplesSSM027, SSM042, SSM017, SSM044, SSM076, SSM022, SSM056
Known GenesERICH1-AS1
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)dgv1173e201
Frequency
Sample Size96
Observed Gain0
Observed Loss7
Observed Complex0
Frequencyn/a


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