A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723036



Internal ID10306672
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9038155..9039056hg38UCSC Ensembl
Outerchr21:9876988..9877889hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg38902
hg19902
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6853027, essv6921587, essv6679009
SamplesSSM017, SSM032, SSM086
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)esv2723036
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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