A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6682717



Internal ID10095424
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9012664..9015106hg38UCSC Ensembl
Outerchr21:9851497..9853939hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382443
hg192443
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723033, esv2723012, esv2723019
Supporting Variants
SamplesSSM033
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)essv6682717
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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