A curated catalogue of human genomic structural variation




Variant Details

Variant: dgv1271e201



Internal ID20126158
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr9:134469815..134470604hg38UCSC Ensembl
chr9:137361661..137362450hg19UCSC Ensembl
Cytoband9q34.2
Allele length
AssemblyAllele length
hg38790
hg19790
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsesv2739212, esv2739216, esv2739214
SamplesSSM027, SSM065, SSM002, SSM023, SSM028, SSM096, SSM026, SSM089, SSM017, SSM001, SSM066, SSM068, SSM078, SSM016, SSM077, SSM022, SSM025
Known Genes
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)dgv1271e201
Frequency
Sample Size96
Observed Gain0
Observed Loss17
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer