A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847293



Internal ID10246046
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220706331..220706385hg38UCSC Ensembl
Outerchr1:220879673..220879727hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723228, esv2723206, esv2723217
Supporting Variants
SamplesSSM086
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)essv6847293
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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