A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2715263



Internal ID10298899
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr1:99619212..99619394hg38UCSC Ensembl
Outerchr1:100084768..100084950hg19UCSC Ensembl
Cytoband1p21.2
Allele length
AssemblyAllele length
hg38183
hg19183
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6847138
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)esv2715263
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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