A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6960842



Internal ID10063099
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:57110323..57110702hg38UCSC Ensembl
Outerchr20:55685379..55685758hg19UCSC Ensembl
Cytoband20q13.31
Allele length
AssemblyAllele length
hg38380
hg19380
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2722593
Supporting Variants
SamplesSSM026
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)essv6960842
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


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