A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719450



Internal ID9953743
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171210263..171211428hg38UCSC Ensembl
Outerchr1:171179402..171180567hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg381166
hg191166
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6764259, essv6759160, essv6750705, essv6733583, essv6954948, essv6747890, essv6961754, essv6859343, essv6669151, essv6972581, essv6853429, essv6756647, essv6880525, essv6847219, essv6864116
SamplesSSM059, SSM027, SSM087, SSM088, SSM057, SSM061, SSM029, SSM026, SSM089, SSM094, SSM031, SSM086, SSM049, SSM056, SSM063
Known GenesFMO2
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)esv2719450
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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