A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2719461



Internal ID10303097
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171210782..171210955hg38UCSC Ensembl
Outerchr1:171179921..171180094hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38174
hg19174
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6954948, essv6961754, essv6859343, essv6669151, essv6853429, essv6880525, essv6847219, essv6864116
SamplesSSM027, SSM087, SSM088, SSM026, SSM089, SSM094, SSM031, SSM086
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)esv2719461
Frequency
Sample Size96
Observed Gain0
Observed Loss8
Observed Complex0
Frequencyn/a


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