A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6738733



Internal ID10148340
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:10760311..10767886hg38UCSC Ensembl
Outerchr21:10744571..10752146hg19UCSC Ensembl
Cytoband21p11.2
Allele length
AssemblyAllele length
hg387576
hg197576
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723112, esv2723108, esv2723094, esv2723119, esv2723110, esv2723122
Supporting Variants
SamplesSSM050
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)essv6738733
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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