A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6852649



Internal ID10250866
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:38736977..38737132hg38UCSC Ensembl
Outerchr20:37365620..37365775hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38156
hg19156
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722401
Supporting Variants
SamplesSSM086
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)essv6852649
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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