A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6863441



Internal ID10257092
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:22538850..22538977hg38UCSC Ensembl
Outerchr20:22519488..22519615hg19UCSC Ensembl
Cytoband20p11.21
Allele length
AssemblyAllele length
hg38128
hg19128
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722290
Supporting Variants
SamplesSSM088
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)essv6863441
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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