A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6847346



Internal ID10246094
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:244582938..244582992hg38UCSC Ensembl
Outerchr1:244746240..244746294hg19UCSC Ensembl
Cytoband1q44
Allele length
AssemblyAllele length
hg3855
hg1955
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2726662, esv2726651
Supporting Variants
SamplesSSM086
Known GenesC1orf101
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)essv6847346
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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