A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6925566



Internal ID10032934
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10752088..10754870hg38UCSC Ensembl
Outerchr21:10757587..10760369hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382783
hg192783
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723123, esv2723112, esv2723108, esv2723094, esv2723119, esv2723110
Supporting Variants
SamplesSSM018
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)essv6925566
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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