A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722519



Internal ID10306155
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:51890705..51890904hg38UCSC Ensembl
Outerchr20:50507244..50507443hg19UCSC Ensembl
Cytoband20q13.2
Allele length
AssemblyAllele length
hg38200
hg19200
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv657e201
Supporting Variantsessv6916988, essv6721600, essv6946025, essv6696560, essv6713827, essv6674628, essv6863469, essv6710267, essv6852660, essv6873664, essv6880135, essv6882971, essv6925231, essv6960826, essv6810063
SamplesSSM075, SSM011, SSM093, SSM042, SSM088, SSM041, SSM023, SSM018, SSM026, SSM094, SSM031, SSM044, SSM086, SSM016, SSM037
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)esv2722519
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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