A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6868664



Internal ID9918593
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr21:44502884..44502964hg38UCSC Ensembl
Outerchr21:45922767..45922847hg19UCSC Ensembl
Cytoband21q22.3
Allele length
AssemblyAllele length
hg3881
hg1981
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2723668, esv2723638, esv2723666, esv2723667
Supporting Variants
SamplesSSM089
Known GenesTSPEAR
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)essv6868664
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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