A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6793150



Internal ID10193696
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10752179..10755740hg38UCSC Ensembl
Outerchr21:10756717..10760278hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg383562
hg193562
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723123, esv2723112, esv2723108, esv2723094, esv2723119, esv2723110
Supporting Variants
SamplesSSM070
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)essv6793150
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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