A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6756647



Internal ID9817951
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:171210320..171211264hg38UCSC Ensembl
Outerchr1:171179459..171180403hg19UCSC Ensembl
Cytoband1q24.3
Allele length
AssemblyAllele length
hg38945
hg19945
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2719450
Supporting Variants
SamplesSSM059
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)essv6756647
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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