A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6764232



Internal ID10172554
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:115529411..115531817hg38UCSC Ensembl
Outerchr1:116072032..116074438hg19UCSC Ensembl
Cytoband1p13.2
Allele length
AssemblyAllele length
hg382407
hg192407
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2716551
Supporting Variants
SamplesSSM063
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)essv6764232
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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