A curated catalogue of human genomic structural variation




Variant Details

Variant: esv2722351



Internal ID10305987
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr20:33093209..33094344hg38UCSC Ensembl
Outerchr20:31681015..31682150hg19UCSC Ensembl
Cytoband20q11.21
Allele length
AssemblyAllele length
hg381136
hg191136
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv6784531, essv6776559, essv6967261, essv6937157, essv6816211, essv6839526, essv6750300, essv6852640, essv6804150, essv6716276, essv6832172, essv6773819, essv6840898, essv6971791, essv6960807
SamplesSSM083, SSM027, SSM073, SSM028, SSM021, SSM026, SSM001, SSM086, SSM066, SSM006, SSM068, SSM081, SSM077, SSM010, SSM056
Known GenesBPIFB4
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)esv2722351
Frequency
Sample Size96
Observed Gain0
Observed Loss15
Observed Complex0
Frequencyn/a


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