A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6880555



Internal ID10275982
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:220052667..220052787hg38UCSC Ensembl
Outerchr1:220226009..220226129hg19UCSC Ensembl
Cytoband1q41
Allele length
AssemblyAllele length
hg38121
hg19121
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723151, esv2723140
Supporting Variants
SamplesSSM094
Known GenesRNU5F-1
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)essv6880555
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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