A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722499



Internal ID10306135
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:50301066..50301164hg38UCSC Ensembl
Outerchr20:48917603..48917701hg19UCSC Ensembl
Cytoband20q13.13
Allele length
AssemblyAllele length
hg3899
hg1999
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6909719, essv6868268
SamplesSSM089, SSM014
Known GenesLOC284751
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)esv2722499
Frequency
Sample Size96
Observed Gain0
Observed Loss2
Observed Complex0
Frequencyn/a


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