A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722381



Internal ID9956680
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:36858155..36858737hg38UCSC Ensembl
Outerchr20:35486558..35487140hg19UCSC Ensembl
Cytoband20q11.23
Allele length
AssemblyAllele length
hg38583
hg19583
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6666245, essv6909711, essv6967272, essv6960811, essv6871382, essv6750302, essv6868252, essv6863459, essv6674616, essv6852647
SamplesSSM027, SSM086, SSM088, SSM089, SSM090, SSM031, SSM056, SSM029, SSM026, SSM014
Known GenesSOGA1
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)esv2722381
Frequency
Sample Size96
Observed Gain0
Observed Loss10
Observed Complex0
Frequencyn/a


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