A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1175e201



Internal ID11595019
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr8:977755..978005hg38UCSC Ensembl
chr8:927755..928005hg19UCSC Ensembl
Cytoband8p23.3
Allele length
AssemblyAllele length
hg38251
hg19251
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2736106, esv2736108
SamplesSSM022, SSM099, SSM025, SSM037, SSM076
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)dgv1175e201
Frequency
Sample Size96
Observed Gain0
Observed Loss5
Observed Complex0
Frequencyn/a


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