A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6714152



Internal ID9776553
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:43550464..43553407hg38UCSC Ensembl
Outerchr21:44970345..44973288hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg382944
hg192944
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723610
Supporting Variants
SamplesSSM042
Known GenesHSF2BP
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)essv6714152
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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