A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2723052



Internal ID10306688
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:9091159..9092734hg38UCSC Ensembl
Outerchr21:9929992..9931567hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg381576
hg191576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6961282, essv6859006, essv6784834
SamplesSSM087, SSM026, SSM068
Known GenesTEKT4P2
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)esv2723052
Frequency
Sample Size96
Observed Gain0
Observed Loss3
Observed Complex0
Frequencyn/a


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