A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6729492



Internal ID10140024
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10760298..10762511hg38UCSC Ensembl
Outerchr21:10749946..10752159hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg382214
hg192214
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723112, esv2723108, esv2723094, esv2723119, esv2723110, esv2723122
Supporting Variants
SamplesSSM046
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)essv6729492
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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