A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6804179



Internal ID10205302
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:62971595..62972336hg38UCSC Ensembl
Outerchr20:61602947..61603688hg19UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg38742
hg19742
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722844
Supporting Variants
SamplesSSM073
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)essv6804179
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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